| 研究 / 研究業績・PUblication

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2025
1: Ando M, Higuchi Y, Yuan JH, Yoshimura A, Yano C, Hobara T, Kojima F, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Okamoto Y, Matsushige T, Mitsui J, Tsuji S, Takashima H. SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights. J Neurol. 2025 Feb 11;272(3):191. doi: 10.1007/s00415-025-12925-4.
2: Baba Y, Maeda M, Muramatsu K, Tominaga K, Ueda K, Komaki S, Saito Y, Hamada M, Satake W, Nishino I, Toda T. [SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report]. Rinsho Shinkeigaku. 2025 Feb 21;65(2):139-145. Japanese. doi: 10.5692/clinicalneurol.cn-002046. Epub 2025 Feb 18.
3: Beck G, Yamadera M, Tarutani A, Yonenobu Y, Mike A, Hideshima M, Kanki H, Maeda K, Inoue K, Satake W, Hasegawa M, Mochizuki H, Murayama S. Neuropathological and Biochemical Profiles of Lewy Pathology in the Central and Peripheral Nervous Systems of an Autopsy Case of SNCA Duplication. Neuropathology. 2025 Aug;45(4):e70020. doi: 10.1111/neup.70020.
4: Egashira S, Kunisawa S, Koga M, Ihara M, Tsuruta W, Uesaka Y, Fushimi K, Toda T, Imanaka Y. Safety and outcomes of intravenous thrombolysis in acute ischemic stroke with intracranial artery dissection. Int J Stroke. 2025 Jul;20(6):741-749. doi: 10.1177/17474930251317326. Epub 2025 Feb 20.
5: Furuya Y, Sato K, Niimi Y, Ihara R, Suzuki K, Iwata A, Iwatsubo T. Cognitive function instrument-based anosognosia to predict amyloid status. J Alzheimers Dis. 2025 Apr;104(4):995-1000. doi: 10.1177/13872877251317508. Epub 2025 Feb 9. 
6: Hamada M. Myoclonus. Mov Disord Clin Pract. 2025 Jun 27. doi: 10.1002/mdc3.70199. Epub ahead of print.
7: Hayashi T, Toda T, Chiba A, Hattori N, Sonoo M, Nakajima H, Yokota T, Iguchi Y, Murakami H, Kato H, Kano O, Kitagawa K, Kitagawa S, Nagayama H, Kimura K. Frequency of Guillain-Barré Syndrome During the COVID-19 Pandemic: A Multicenter Study. Muscle Nerve. 2025 Aug;72(2):224-229. doi: 10.1002/mus.28430. Epub 2025 May 5.
8: Hayashi T, Toda T, Chiba A, Hattori N, Sonoo M, Nakajima H, Yokota T, Iguchi Y, Murakami H, Kato H, Kano O, Kitagawa K, Kitagawa S, Nagayama H, Kimura K. Reply: "Letter to the Editors; Less Social Contact During the Pandemic Could Explain the Lower Prevalence of GBS During This Time". Muscle Nerve. 2025 Aug 18. doi: 10.1002/mus.70005. Epub ahead of print.
9: Hobara T, Ando M, Higuchi Y, Yuan JH, Yoshimura A, Saito T, Shiihara T, Okuda S, Fukushima N, Awano H, Inoue T, Yano C, Kojima F, Kodama K, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Mitsui J, Tsuji S, Takashima H. Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series. J Neurol. 2025 Jul 16;272(8):514. doi: 10.1007/s00415-025-13243-5.
10: Hongo H, Miyawaki S, Takai K, Ono H, Shimizu M, Matsukawa T, Ogawa S, Teranishi Y, Kiyofuji S, Ohara K, Ishigami D, Sakai Y, Torazawa S, Hirano Y, Shimada D, Kunii N, Shimada S, Mitsui J, Katoh H, Komura D, Nakatomi H, Ishikawa S, Saito N. Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous Malformations. Transl Stroke Res. 2025 Jun 6. doi: 10.1007/s12975-025-01360-2. Epub ahead of print.
11: Hosokawa H, Kakinuma K, Osawa SI, Kikuchi H, Katsuse K, Ota S, Kobayashi E, Kawakami N, Oyafuso M, Ukishiro K, Jin K, Ishida M, Niizuma K, Endo H, Nakasato N, Suzuki K. Retrospective interviews reveal unawareness of weakness following reversible hemispheric suppression: An exploratory study using selective anesthesia for functional evaluation. Cortex. 2025 Jul 5;190:146-154. doi: 10.1016/j.cortex.2025.06.015. Epub ahead of print.
12: Katsuse K, Kubota A, Kakinuma K, Ota S, Kanno S, Kakumoto T, Shirota Y, Hamada M, Toda T, Suzuki K. Case of Pure Agraphia in Kana and Romaji Without Sensorimotor Deficits After a Small Infarct of the Posterior Limb of the Internal Capsule. Neurology. 2025 Apr 8;104(7):e210254. doi: 10.1212/WNL.0000000000210254. Epub 2025 Mar 11.
13: Katsuse K, Kakinuma K, Kawakami N, Ota S, Ogawa N, Kawamura A, Iseki C, Hamada M, Toda T, Matsuda M, Kanno S, Suzuki K. Distinct cerebral perfusion patterns and linguistic profiles in Alzheimer's disease-related primary progressive aphasia. Neurol Sci. 2025 Jul;46(7):3071-3083. doi: 10.1007/s10072-025-08100-2. Epub 2025 Mar 24.
14: Katsuse K, Kakinuma K, Osawa SI, Ota S, Kikuchi H, Kawamura A, Ukishiro K, Tanji K, Kawakami N, Iseki C, Kanno S, Shirota Y, Hamada M, Toda T, Endo H, Nakasato N, Suzuki K. Spatiotemporal dynamics of reading Kana (syllabograms) and Kanji (morphograms). Neuroimage. 2025 Aug 15;317:121316. doi: 10.1016/j.neuroimage.2025.121316. Epub 2025 Jun 7.
15: Katsuse K, Yashita D, Kakinuma K, Hamada M, Toda T, Suzuki K. Left inferior temporal hemorrhage due to cerebral amyloid angiopathy mimicking semantic dementia. Neurol Sci. 2025 Jul 11. doi: 10.1007/s10072-025-08358-6. Epub ahead of print.
16: Kikuchi H, Osawa SI, Kakinuma K, Ota S, Katsuse K, Ukishiro K, Jin K, Endo H, Nakasato N, Suzuki K. Impact of aphasia on verbal memory: insights from the Selective Anesthesia for Functional Evaluation. J Neurosurg. 2025 Jun 13:1-8. doi: 10.3171/2025.2.JNS242534. Epub ahead of print. PMID: 40513240. 
17: Kobayashi R, Naruse H, Suzuki A, Toda T, Kawakatsu S. VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report. Neurocase. 2025 Aug;31(4):167-172. doi: 10.1080/13554794.2025.2537955. Epub 2025 Jul 22.
18: Komaki S, Kubota A, Kitamura A, Maeda M, Kadoya M, Hokkoku K, Kobayashi S, Bannai T, Shiio Y, Uchio N, Uesaka Y, Kikuchi J, Sugimoto I, Mikata T, Okudera R, Suzuki K, Arai N, Sakiyama Y, Tokushige SI, Ichikawa Y, Yajima N, Nakashima R, Mimori T, Shimizu J, Komai T, Tsuchiya H, Fujio K, Toda T. Clinicopathological features of anti-HMGCR and anti-SRP myopathies that do not satisfy the EULAR/ACR criteria of inflammatory myopathies. Rheumatology (Oxford). 2025 Aug 1;64(8):4580-4588. doi: 10.1093/rheumatology/keaf183.
20: Matsukawa T, Sudo A, Kakumoto T, Hao A, Kainaga M, Chang H, Mano T, Ishiura H, Mitsui J, Hayashi T, Morishita S, Tsuji S, Toda T. In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy. Hum Genome Var. 2025 Feb 28;12(1):5. doi: 10.1038/s41439-025-00309-z.
21: Ma K, Chung SW, Rothwell JC, Hamada M, Goetz SM. Calcium-dependent nonlinearity describes the after-effects of different patterns of theta-burst TMS. Clin Neurophysiol. 2025 Apr 10:2010713. doi: 10.1016/j.clinph.2025.04.001. Epub ahead of print.
22: Mitsutake A, Matsukawa T, Hino R, Fujino G, Sakai Y, Mitsui J, Ishiura H, K Iwata N, Tsuji S, Toda T. Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia. Intern Med. 2025 Aug 1;64(15):2290-2294. doi: 10.2169/internalmedicine.4767-24. Epub 2025 Feb 1.
23: Miyashita A, Obinata A, Hara N, Mitsumori R, Kaneda D, Hashizume Y, Sano T, Takao M, Gabdulkhaev R, Tada M, Kakita A, Arakawa A, Morishima M, Murayama S, Saito Y, Hatsuta H, Matsubara T, Akagi A, Riku Y, Miyahara H, Sone J, Yoshida M, Yamaguchi H, Tsukie T, Hasegawa M, Kasuga K, Kikuchi M, Akatsu H, Kuwano R, Iwatsubo T; Japanese Alzheimer's Disease Neuroimaging Initiative; Niida S, Ozaki K, Ikeuchi T. Association of rare APOE missense variants with Alzheimer's disease in the Japanese population. J Alzheimers Dis. 2025 Jul;106(1):363-377. doi: 10.1177/13872877251340710. Epub 2025 May 21. 
24: Nakamura Y, Ueda M, Kodama S, Kimura T, Shirota Y, Hamada M, Ishiura H, Iizuka T, Toda T. Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected". Intern Med. 2025 Jul 15;64(14):2262. doi: 10.2169/internalmedicine.5371-25. Epub 2025 Apr 19.
25: Nakashima S, Sato K, Niimi Y, Toda T, Iwatsubo T. Factors affecting participation in web-based Alzheimer's questionnaire surveys: Lessons from the Japanese trial-ready cohort. JAR Life. 2025 Mar 3;14:100008. doi: 10.1016/j.jarlif.2025.100008.
26: Nakashima S, Kodama S, Aso S, Jo T, Yasunaga H, Isogai T, Matsui H, Shirota Y, Fushimi K, Toda T, Hamada M. Argatroban plus dual antiplatelet therapy versus dual antiplatelet alone for acute atherothrombotic cerebral infarction. Int J Stroke. 2025 May 15:17474930251344458. doi: 10.1177/17474930251344458. Epub ahead of print.
27: Nakashima S, Sato K, Niimi Y, Ihara R, Suzuki K, Iwata A, Toda T, Iwatsubo T; for Alzheimer's Disease Neuroimaging Initiative. Therapeutic time window of disease-modifying therapy for early Alzheimer's disease. Alzheimers Dement (N Y). 2025 May 29;11(2):e70102. doi: 10.1002/trc2.70102.
28: Ohara K, Miyawaki S, Teranishi Y, Komura D, Mitsui J, Ikemura M, Hongo H, Sakai Y, Dofuku S, Ishigami D, Okano A, Takami H, Katoh H, Shin M, Nakatomi H, Ishikawa S, Ushiku T, Saito N. Genetic Analysis of Intracranial Schwannomas: Differential NF2 Alteration Frequencies in Nonvestibular Schwannomas Versus Vestibular Schwannomas. Neurosurgery. 2025 May 15. doi: 10.1227/neu.0000000000003508. Epub ahead of print.
29: Okubo S, Orimo K, Matsukawa T, Hamada M, Satake W, Mitsui J, Toda T. A subgroup of multiple system atrophy with rapid decline in vital capacity. J Neurol Sci. 2025 Feb 15;469:123391. doi: 10.1016/j.jns.2025.123391. Epub 2025 Jan 8.
30: Okubo S, Matsukawa T, Kawamoto N, Tsujita M, Orimo K, Naruse H, Mitsui J, Hamada M, Satake W, Toda T. Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration. J Hum Genet. 2025 Jul;70(7):381-384. doi: 10.1038/s10038-025-01342-0. Epub 2025 Apr 22.
31: Orimo K, Matsukawa T, Mitsutake A, Cho T, Naruse H, Sakiyama Y, Sumi K, Uchio N, Satake A, Takiyama Y, Matsushita T, Omae Y, Kawai Y, Tokunaga K, Mitsui J, Ishiura H, Tsuji S, Toda T. Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy. J Neurol Sci. 2025 May 15;472:123486. doi: 10.1016/j.jns.2025.123486. Epub 2025 Apr 3.
32: Ramos ML, Ueha R, Goto T, Ichijo K, Sugita H, Shirota Y, Kondo K. A Challenging Case of Severe Dysphagia in Multiple System Atrophy. Dysphagia. 2025 Aug 15. doi: 10.1007/s00455-025-10871-x. Epub ahead of print.
33: Sato K, Niimi Y, Ihara R, Iwata A, Nemoto K, Arai T, Higashi S, Igarashi A, Kasuga K, Iwatsubo T. Sentiment analysis of social media responses to the approval of lecanemab for the treatment of Alzheimer's disease in Japan. J Alzheimers Dis Rep. 2025 Jan 15;9:25424823241307639. doi: 10.1177/25424823241307639.
34: Sato K, Niimi Y, Ihara R, Iwata A, Suzuki K, Iwatsubo T. Blood-based biomarker prescreening with different testing combinations and cutoffs: A simulation study examining efficacy and cost-effectiveness in Alzheimer's disease prevention studies. Alzheimers Dement (N Y). 2025 Mar 10;11(1):e70065. doi: 10.1002/trc2.70065.
35: Sato K, Ihara R, Niimi Y, Nakashima S, Iwata A, Iwatsubo T. Disparities in out-of-pocket costs for disease-modifying therapy under Japan's universal health insurance system. J Prev Alzheimers Dis. 2025 Jun;12(6):100170. doi: 10.1016/j.tjpad.2025.100170. Epub 2025 Apr 15.
36: Sato K, Ihara R, Niimi Y, Suzuki K, Iwata A, Iwatsubo T. Audio review as a measure of quality assurance and control of cognitive assessments in Alzheimer's disease studies: An experience from Japanese Trial-Ready Cohort Study. J Alzheimers Dis Rep. 2025 Jun 9;9:25424823251349188. doi: 10.1177/25424823251349188.
37: Sato K, Niimi Y, Ihara R, Iwata A, Suzuki K, Iwatsubo T; for Alzheimer's Disease Neuroimaging Initiative. Effect of corrections for renal function on plasma phosphorylated tau performance for Alzheimer's disease. J Alzheimers Dis. 2025 Aug;106(3):954-963. doi: 10.1177/13872877251350718. Epub 2025 Jun 30.
38: Sato K, Niimi Y, Ihara R, Iwata A, Iwatsubo T. How many sites are enough? a novel, site-based power analysis method for real-world registry studies of anti- amyloid monoclonal antibodies. JAR Life. 2025 Jul 22;14:100020. doi: 10.1016/j.jarlif.2025.100020.
39: Sekiya H, Franke L, Hashimoto Y, Takata M, Nishida K, Futamura N, Hasegawa K, Kowa H, Ross OA, McLean PJ, Toda T, Wszolek ZK, Dickson DW. Widespread distribution of α-synuclein oligomers in LRRK2-related Parkinson's disease. Acta Neuropathol. 2025 May 2;149(1):42. doi: 10.1007/s00401-025-02872-9.
40: Shibata Y, Chang H, Nakamura K, Yamada S, Matsushima M, Saigoh K, Ishiura H, Sekijima Y, Maruyama H, Ikeuchi T, Hasegawa K, Aoki M, Katsuno M, Toda T, Yabe I; Committee on Medical Genetics, Japanese Society of Neurology. [Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan]. Rinsho Shinkeigaku. 2025 Feb 21;65(2):101-107. Japanese. doi: 10.5692/clinicalneurol.cn-002049. Epub 2025 Jan 24.
41: Shimada D, Miyawaki S, Nakanishi K, Jono T, Maruoka H, Kawai T, Harada Y, Kono T, Komatsubara K, Nakauchi J, Matsumoto Y, Okada K, Dofuku S, Hongo H, Mitsui J, Teranishi Y, Ohara K, Ishigami D, Sakai Y, Kawano H, Noguchi A, Nakatomi H, Saito N, Hirano T, Shiokawa Y. RNF213 p.Arg4810Lys (c.14429G>A) is associated with extracranial arterial stenosis. Brain Commun. 2025 Jan 31;7(1):fcaf049. doi: 10.1093/braincomms/fcaf049.
42: Shimizu T, Horiuchi E, Matsukawa T, Yasuda T, Hashida H. A Unique Case of Genetic Creutzfeldt-Jakob Disease (E200K Mutation) with CSF-Restricted Anti Myelin Oligodendrocyte Glycoprotein Antibody. Intern Med. 2025 Jul 3. doi: 10.2169/internalmedicine.5715-25. Epub ahead of print. 
43: Shimizu Y, Sato K, Ogawa S, Cho D, Takahashi Y, Yamashiro D, Li Y, Takahashi T, Hinakura K, Iizuka A, Furuya T, Suzuki H. Negative perceptions toward older adults and life satisfaction among community-dwelling older citizens in Japan. F1000Res. 2025 Mar 11;13:467. doi: 10.12688/f1000research.149132.4.
44: Sogabe S, Nakano H, Ogasahara Y, Cha PC, Ando Y, Taniguchi-Ikeda M, Matsumoto R, Kanagawa M, Kobayashi K, Murayama S, Aoi T, Toda T, Satake W. Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis. J Hum Genet. 2025 Jul;70(7):371-374. doi: 10.1038/s10038-025-01335-z. Epub 2025 Apr 11.
45: Sugiyama A, Nakagawa Y, Mukai H, Yokota H, Oda F, Yamaguchi A, Ishiwata K, Izumi S, Matsukawa T, Uzawa A, Kuwabara S. Cerebello-brainstem dominant form of adrenoleukodystrophy with neurological symptom onset triggered by COVID-19. J Neurol Sci. 2025 May 15;472:123444. doi: 10.1016/j.jns.2025.123444. Epub 2025 Mar 2.
46: Ueda M, Hamada M. [Hereditary Extrapyramidal Disorders Encountered in Daily Clinical Practice: Motor Symptoms, Causal Genes, and Treatment of Huntington's Disease, Neuroacanthocytosis, and Hereditary Dystonia]. Brain Nerve. 2025 May;77(5):455-468. Japanese. doi: 10.11477/mf.188160960770050455.
47: Yano S, Matsukawa T, Sumi K, Yoshioka R, Baba Y, Maekawa H, Hamada M, Satake W, Ikemura M, Toda T. Neurosarcoidosis Limited to the Central Nervous System and Spleen, Presenting with Episodic Nonfluent Aphasia. JMA J. 2025 Jul 15;8(3):996-997. doi: 10.31662/jmaj.2025-0067. Epub 2025 Jun 27.
48: Yu J, Kodama S, Nakajima K, Kato S, Nakamoto H, Kodama H, Sasaki K, Nakarai H, Miyahara J, Hamada M, Takami H, Abe H, Sumitani M, Taniguchi Y, Tanaka S, Oshima Y. Prevalence of idiopathic normal pressure hydrocephalus in patients with degenerative cervical myelopathy. Eur Spine J. 2025 May 28. doi: 10.1007/s00586-025-08945-3. Epub ahead of print. 

2024
1: Akatani R, Chihara N, Hara A, Tsuji A, Koto S, Kobayashi K, Toda T, Matsumoto R. Interleukin-6 Signaling Blockade Induces Regulatory Plasmablasts in Neuromyelitis Optica Spectrum Disorder. Neurol Neuroimmunol Neuroinflamm. 2024 Jul;11(4):e200266. doi: 10.1212/NXI.0000000000200266. Epub 2024 Jun 18. 
2: Arakawa A, Goto R, Higashihara M, Hiroyoshi Y, Shioya A, Hara M, Orita M, Matsubara T, Sengoku R, Kameyama M, Tokumaru AM, Hasegawa M, Toda T, Iwata A, Murayama S, Saito Y. Clinicopathological study of dementia with grains presenting with parkinsonism compared with a typical case. Neuropathology. 2024 Oct;44(5):376-387. doi: 10.1111/neup.12973. Epub 2024 Apr 1. 
3: Arakawa A, Murayama S, Morimoto S, Matsubara T, Sengoku R, Kameyama M, Tokumaru AM, Tarutani A, Hasegawa M, Iwata A, Toda T, Saito Y. A case of argyrophilic grain disease with an initial clinical diagnosis of Parkinson's disease. J Neurol. 2024 Dec;271(12):7628-7632. doi: 10.1007/s00415-024-12688-4. Epub 2024 Oct 15. 
4: Egashira S, Shin JH, Yoshimura S, Koga M, Ihara M, Kimura N, Toda T, Imanaka Y. Cost-effectiveness of endovascular therapy for acute stroke with a large ischemic region in Japan: impact of the Alberta Stroke Program Early CT Score on cost-effectiveness. J Neurointerv Surg. 2024 Dec 26;17(e1):e60-e67. doi: 10.1136/jnis-2023-021068. 
5: Funakawa K, Kurihara M, Takahashi K, Higashihara M, Hara M, Mitsutake A, Ishiura H, Tokumaru AM, Sonoo M, Murayama S, Saito Y, Iwata A. Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease. J Neurol Sci. 2024 Mar 15;458:122915. doi: 10.1016/j.jns.2024.122915. Epub 2024 Feb 2.
6: Furuta Y, Osaki Y, Nakagawa Y, Han SI, Araki M, Shikama A, Ohuchi N, Yamazaki D, Matsuda E, Nohara S, Mizunoe Y, Kainoh K, Suehara Y, Ohno H, Takeuchi Y, Miyamoto T, Murayama Y, Sugano Y, Iwasaki H, Hirano KI, Koseki M, Nakano S, Tokiwa H, Sekiya M, Yahagi N, Matsuzaka T, Nakamagoe K, Tomidokoro Y, Mitsui J, Tsuji S, Suzuki H, Shimano H. Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia. J Atheroscler Thromb. 2024 Sep 1;31(9):1304-1318. doi: 10.5551/jat.64579. Epub 2024 Mar 28. 
7: Goto M, Takahashi H, Yoshida R, Itamiya T, Nakano M, Nagafuchi Y, Harada H, Shimizu T, Maeda M, Kubota A, Toda T, Hatano H, Sugimori Y, Kawahata K, Yamamoto K, Shoda H, Ishigaki K, Ota M, Okamura T, Fujio K. Age-associated CD4⁺ T cells with B cell-promoting functions are regulated by ZEB2 in autoimmunity. Sci Immunol. 2024 Mar 29;9(93):eadk1643. doi: 10.1126/sciimmunol.adk1643. Epub 2024 Mar 29. 
8: Hobara T, Higuchi Y, Yoshida M, Suehara M, Ando M, Yuan JH, Yoshimura A, Kojima F, Matsuura E, Okamoto Y, Mitsui J, Tsuji S, Takashima H. Genetic and pathophysiological insights from autopsied patient with primary familial brain calcification: novel MYORG variants and astrocytic implications. Acta Neuropathol Commun. 2024 Aug 23;12(1):136. doi: 10.1186/s40478-024-01847-3. 
9: Horiuchi Y, Hashimoto K, Yoshida R, Sekizawa A, Kubota A, Maeda M, Toda T, Tanaka Y. Severe finger necrosis in antisynthetase syndrome with positive anti- OJ antibodies. Clin Case Rep. 2024 Jun 2;12(6):e8990. doi: 10.1002/ccr3.8990. 
10: Kakinuma K, Osawa SI, Katsuse K, Hosokawa H, Ukishiro K, Jin K, Niizuma K, Tominaga T, Endo H, Nakasato N, Suzuki K. Assessment of language lateralization in epilepsy patients using the super-selective Wada test. Acta Neurochir (Wien). 2024 Feb 10;166(1):77. doi: 10.1007/s00701-024-05957-8. 
11: Kakinuma K, Osawa SI, Kikuchi H, Katsuse K, Ishida M, Ukishiro K, Jin K, Kayano S, Mugikura S, Endo H, Nakasato N, Matsuda M, Suzuki K. Recurring utterances induced by local anesthetic administration to the left frontal lobe. Cortex. 2025 Feb;183:15-20. doi: 10.1016/j.cortex.2024.10.019. Epub 2024 Nov 19. 
12: Kakumoto T, Orimo K, Matsukawa T, Mitsui J, Ishihara T, Onodera O, Suzuki Y, Morishita S; Japan Multiple System Atrophy Registry Consortium; Toda T, Tsuji S. Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population. Eur J Hum Genet. 2025 Mar;33(3):325-333. doi: 10.1038/s41431-024-01743-3. Epub 2024 Nov 27. 
13: Kanno S, Liu J, Kawamura A, Ota S, Kawakami N, Iseki C, Kakinuma K, Matsubara S, Katsuse K, Sato K, Takeuchi T, Tanaka Y, Kodama H, Nagasaka T, Sai M, Odagiri H, Saito M, Takanami K, Mugikura S, Suzuki K. The utility of customised tissue probability maps and templates for patients with idiopathic normal pressure hydrocephalus: a computational anatomy toolbox (CAT12) study. Fluids Barriers CNS. 2024 Dec 30;21(1):108. doi: 10.1186/s12987-024-00611-y. Erratum in: Fluids Barriers CNS. 2025 Apr 22;22(1):40. doi: 10.1186/s12987-025-00655-8. 
14: Kashiwagi-Hakozaki M, Ikemura M, Naruse H, Takahashi Y, Toda T, Ushiku T. An autopsy case report of amyotrophic lateral sclerosis with unusual basophilic inclusions exhibiting immunopositivity for optineurin. Pathol Int. 2025 Feb;75(2):121-123. doi: 10.1111/pin.13501. Epub 2024 Dec 11. PMID: 39660938.  15: Kassavetis P, Chen R, Ganos C, Hallett M, Hamada M, Latorre A, Pal PK, Schwingenschuh P, Vial F, Tijssen MA, Merchant S. Global Perceptions and Utilization of Clinical Neurophysiology in Movement Disorders. Mov Disord Clin Pract. 2024 Apr;11(4):346-351. doi: 10.1002/mdc3.13974. Epub 2024 Feb 11. 
16: Katsuse K, Kakinuma K, Kawakami N, Ota S, Kawamura A, Ogawa N, Iseki C, Hamada M, Toda T, Kanno S, Matsuda M, Suzuki K. Oral applause sign in progressive supranuclear palsy. Cortex. 2025 Feb;183:391-397. doi: 10.1016/j.cortex.2024.11.021. Epub 2024 Dec 27. 
17: Kawakami N, Okada Y, Morihara K, Katsuse K, Kakinuma K, Matsubara S, Kanno S, Suzuki K. Corrigendum to "Long-lasting pure topographical disorientation due to heading disorientation following left retrosplenial hemorrhage: A report of two cases" [Brain Cogn. 181 (2024) 106211]. Brain Cogn. 2025 Aug;188:106317. doi: 10.1016/j.bandc.2025.106317. Epub 2025 Jun 7. Erratum for: Brain Cogn. 2024 Nov;181:106211. doi: 10.1016/j.bandc.2024.106211.
18: Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T. A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3. Intern Med. 2024 Nov 15;63(22):3083-3086. doi: 10.2169/internalmedicine.3435-23. Epub 2024 Mar 18. 
19: Komaki S, Kubota A, Katsuse K, Kitamura A, Maeda M, Matsukawa T, Eura N, Saito Y, Nishino I, Toda T. Response to: Calpainopathy Can Manifest Itself in Not Only Skeletal Muscle but Also the Brain and Myocardium. Intern Med. 2025 Jan 15;64(2):329. doi: 10.2169/internalmedicine.3974-24. Epub 2024 May 30. 
20: Kondo A, Hokkoku K, Mukai T, Uchida Y, Chiba T, Kitamura A, Kubota A, Hatanaka Y, Sonoo M, Shimizu J, Kobayashi S. Nerve ultrasound aids sural nerve biopsy in sarcoid neuropathy. J Neurol Sci. 2024 May 15;460:122984. doi: 10.1016/j.jns.2024.122984. Epub 2024 Apr 1. PMID: 38580483. 
21: Latorre A, Ganos C, Hamada M, Phielipp N, Rocchi L, Merchant S, Tijssen MA, van der Veen S, Chen R. Diagnostic Utility of Clinical Neurophysiology in Jerky Movement Disorders: A Review from the MDS Clinical Neurophysiology Study Group. Mov Disord Clin Pract. 2025 Mar;12(3):272-284. doi: 10.1002/mdc3.14306. Epub 2024 Dec 18. 
22: Lefaucheur JP, Moro E, Shirota Y, Ugawa Y, Grippe T, Chen R, Benninger DH, Jabbari B, Attaripour S, Hallett M, Paulus W. Clinical neurophysiology in the treatment of movement disorders: IFCN handbook chapter. Clin Neurophysiol. 2024 Aug;164:57-99. doi: 10.1016/j.clinph.2024.05.007. Epub 2024 May 23. 
23: Liu J, Kanno S, Iseki C, Kawakami N, Kakinuma K, Katsuse K, Matsubara S, Ota S, Endo K, Takanami K, Osawa SI, Kawaguchi T, Endo H, Mugikura S, Suzuki K. The grasp reflex in patients with idiopathic normal pressure hydrocephalus. J Neurol. 2024 Jul;271(7):4191-4202. doi: 10.1007/s00415-024-12341-0. Epub 2024 Apr 8. 
24: Maeda M, Kawahara T, Kubota A, Shimizu J, Toda T. Prevalence and risk surveillance of anti-mitochondrial antibody-positive myositis: Outcomes of a nationwide survey. J Neurol Sci. 2024 Dec 15;467:123287. doi: 10.1016/j.jns.2024.123287. Epub 2024 Oct 28. PMID: 39489081. 
25: Mitsutake A, Matsukawa T, Naito T, Ishiura H, Mitsui J, Harada H, Fujio K, Fujishiro J, Mori H, Morishita S, Tsuji S, Toda T. A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy. Intern Med. 2025 Mar 1;64(5):759-762. doi: 10.2169/internalmedicine.3999-24. Epub 2024 Aug 1. 
26: Mitsutake A, Mano T, Kawai M, Kurokawa R, Ishiura H, Sakuishi K, Mori H, Toda T. Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome. Intern Med. 2025 May 1;64(9):1404-1407. doi: 10.2169/internalmedicine.4350-24. Epub 2024 Sep 27. 
27: Mitsutake A, Kawai M, Orimo K, Matsukawa T, Ishiura H, Mitsui J, Nakajima H, Murai H, Tsuji S, Goto J, Iwata NK. A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability. Cerebellum. 2024 Dec 28;24(1):20. doi: 10.1007/s12311-024-01782-y. 
28: Miyano R, Mitsutake A, Matsukawa T, Obata S, Koyama H, Nakai Y, Ishiura H, Kubota A, Shimizu J, Sakuishi K, Toda T. Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy. Intern Med. 2025 Jul 15;64(14):2240-2244. doi: 10.2169/internalmedicine.4353-24. Epub 2024 Dec 12. 
29: Naito T, Inoue K, Namba S, Sonehara K, Suzuki K; BioBank Japan; Matsuda K, Kondo N, Toda T, Yamauchi T, Kadowaki T, Okada Y. Machine learning reveals heterogeneous associations between environmental factors and cardiometabolic diseases across polygenic risk scores. Commun Med (Lond). 2024 Sep 20;4(1):181. doi: 10.1038/s43856-024-00596-7. 
30: Nakamura Y, Ueda M, Kodama S, Kimura T, Shirota Y, Hamada M, Ishiura H, Iizuka T, Toda T. Treatment of Cryptogenic New-onset Refractory Status Epilepticus (C-NORSE) with Tocilizumab. Intern Med. 2024 Dec 15;63(24):3377-3382. doi: 10.2169/internalmedicine.3392-23. Epub 2024 Apr 23.
31: Naruse H, Ishiura H, Esaki K, Mitsui J, Satake W, Greimel P, Shingai N, Machino Y, Kokubo Y, Hamaguchi H, Oda T, Ikkaku T, Yokota I, Takahashi Y, Suzuki Y, Matsukawa T, Goto J, Koh K, Takiyama Y, Morishita S, Yoshikawa T, Tsuji S, Toda T. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. Ann Clin Transl Neurol. 2024 Apr;11(4):946-957. doi: 10.1002/acn3.52013. Epub 2024 Feb 5. 
32: Naruse H, Iseki C, Mitsui J, Miki J, Nagasawa H, Kurokawa K, Kobayashi R, Sato H, Goto J, Satake W, Ishiura H, Tsuji S, Ohta Y, Toda T. A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes. Amyotroph Lateral Scler Frontotemporal Degener. 2024 Nov;25(7-8):791-794. doi: 10.1080/21678421.2024.2374374. Epub 2024 Jul 4. 
33: Niimi Y, Janelidze S, Sato K, Tomita N, Tsukamoto T, Kato T, Yoshiyama K, Kowa H, Iwata A, Ihara R, Suzuki K, Kasuga K, Ikeuchi T, Ishii K, Ito K, Nakamura A, Senda M, Day TA, Burnham SC, Iaccarino L, Pontecorvo MJ, Hansson O, Iwatsubo T. Combining plasma Aβ and p-tau217 improves detection of brain amyloid in non-demented elderly. Alzheimers Res Ther. 2024 May 23;16(1):115. doi: 10.1186/s13195-024-01469-w. 
34: Okubo S, Kakumoto T, Tsujita M, Muramatsu K, Fujiwara S, Hamada M, Satake W, Toda T. Extremely Longitudinally Extensive Transverse Myelitis in a Patient With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease. Cureus. 2024 May 8;16(5):e59938. doi: 10.7759/cureus.59938. 
35: Okubo S, Maeda M, Katsuse K, Ishiura H, Shirota Y, Hamada M, Satake W, Toda T. Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody. Intern Med. 2025 Jun 15;64(12):1900-1905. doi: 10.2169/internalmedicine.4667-24. Epub 2024 Nov 28. 
36: Okubo S, Naruse H, Ishiura H, Sudo A, Esaki K, Mitsui J, Matsukawa T, Satake W, Greimel P, Shingai N, Oya Y, Yoshikawa T, Tsuji S, Toda T. Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis. J Neurol. 2024 Dec 12;272(1):36. doi: 10.1007/s00415-024-12776-5. 
37: Orimo K, Mitsui J, Matsukawa T, Tanaka M, Nomoto J, Ishiura H, Omae Y, Kawai Y, Tokunaga K; NCBN Controls WGS Consortium; Toda T, Tsuji S. Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome. J Hum Genet. 2024 Dec;69(12):613-621. doi: 10.1038/s10038-024-01266-1. Epub 2024 Jul 18. Erratum in: J Hum Genet. 2024 Dec;69(12):679-680. doi: 10.1038/s10038-024-01293-y. 
38: Oyama S, Yamashita H, Yamaji M, Kobayashi T, Kubota A, Shimizu J, Takemura T, Kaneko H. Muscular polyarteritis nodosa with fasciitis and upper extremity involvement. Rheumatol Adv Pract. 2024 Jul 31;8(3):rkae088. doi: 10.1093/rap/rkae088. PMID: 39099571; PMCID: PMC11297502. 
39: Sakurai K, Tokumaru AM, Yoshida M, Saito Y, Wakabayashi K, Komori T, Hasegawa M, Ikeuchi T, Hayashi Y, Shimohata T, Murayama S, Iwasaki Y, Uchihara T, Sakai M, Yabe I, Tanikawa S, Takigawa H, Adachi T, Hanajima R, Fujimura H, Hayashi K, Sugaya K, Hasegawa K, Sano T, Takao M, Yokota O, Miki T, Kobayashi M, Arai N, Ohkubo T, Yokota T, Mori K, Ito M, Ishida C, Idezuka J, Toyoshima Y, Kanazawa M, Aoki M, Hasegawa T, Watanabe H, Hashizume A, Niwa H, Yasui K, Ito K, Washimi Y, Kubota A, Toda T, Nakashima K, Aiba I; J-VAC study group. Conventional magnetic resonance imaging key features for distinguishing pathologically confirmed corticobasal degeneration from its mimics: a retrospective analysis of the J-VAC study. Neuroradiology. 2024 Nov;66(11):1917-1929. doi: 10.1007/s00234-024-03432-w. Epub 2024 Jul 22. 
40: Sakurai Y, Hamada M, Takuma H. Frontal allographic agraphia in a patient with behavioral variant frontotemporal dementia. Neurocase. 2024 Feb;30(1):32-38. doi: 10.1080/13554794.2024.2353936. Epub 2024 May 16. 
41: Sato K, Niimi Y, Ihara R, Iwata A, Ikeuchi T, Iwatsubo T. Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis. J Community Genet. 2024 Apr;15(2):195-204. doi: 10.1007/s12687-024-00697-9. Epub 2024 Jan 16. 
42: Sato K, Niimi Y, Ihara R, Suzuki K, Iwata A, Iwatsubo T; Alzheimer’s Disease Neuroimaging Initiative; Japanese Alzheimer’s Disease Neuroimaging Initiative. Simplifying Alzheimer's Disease Monitoring: A Novel Machine-Learning Approach to Estimate the Clinical Dementia Rating Sum of Box Changes Using the Mini-Mental State Examination and Functional Activities Questionnaire. J Alzheimers Dis. 2024;99(3):953-963. doi: 10.3233/JAD-231426. 
43: Sato K, Niimi Y, Ihara R, Iwata A, Iwatsubo T. Regional Variability in MRI Scans with Different Magnetic Field Strengths in Japan: Implications for Healthcare Preparedness for Alzheimer's Disease Treatment. Biomedicines. 2024 Aug 16;12(8):1870. doi: 10.3390/biomedicines12081870. 
44: Sato K, Iwatsubo T. [Anti-amyloid Antibody Drugs as Disease-Modifying Therapies for Alzheimer's Disease]. Brain Nerve. 2024 Sep;76(9):991-995. Japanese. doi: 10.11477/mf.1416202723. PMID: 39251217. 
45: Sato K, Niimi Y, Ihara R, Iwata A, Iwatsubo T. Adverse Events as a Cause of Unblinding of Allocated Arms in Anti-Amyloid Therapy Trials: A Meta-Analysis of the Predictive Value. J Alzheimers Dis. 2024;101(4):1127-1132. doi: 10.3233/JAD-240623. 
46: Sato K, Niimi Y, Ihara R, Iwata A, Suzuki K, Nemoto K, Arai T, Higashi S, Igarashi A, Kasuga K, Awata S, Iwatsubo T. Public perceptions related to healthcare preparedness to anti-amyloid therapies for Alzheimer's Disease in Japan. Alzheimers Res Ther. 2024 Oct 3;16(1):205. doi: 10.1186/s13195-024-01568-8. 
47: Sekiya H, Franke L, Hashimoto Y, Takata M, Nishida K, Futamura N, Hasegawa K, Kowa H, Ross OA, McLean PJ, Toda T, Wszolek ZK, Dickson DW. Widespread Distribution of α-Synuclein Oligomers in LRRK2-related Parkinson's Disease. bioRxiv [Preprint]. 2024 Dec 20:2024.12.18.629265. doi: 10.1101/2024.12.18.629265. Update in: Acta Neuropathol. 2025 May 2;149(1):42. doi: 10.1007/s00401-025-02872-9. 
48: Shimizu T, Nagashima Y, Matsukawa T, Mitsutake A, Kawai M, Horiuchi Y, Yokoyama K, Takaoka K, Kurihara Y, Toyama K, Sakuishi K, Kurokawa M, Toda T. Rare Co-occurrence of Spinal Cord Hemorrhage from Radiation-induced Cavernous Hemangioma and Classical Hodgkin Lymphoma Post-transplant Lymphoproliferative Disorder. Intern Med. 2024 Oct 15;63(20):2853-2856. doi: 10.2169/internalmedicine.2898-23. Epub 2024 Feb 26. 
49: Shirota Y, Akita M, Tajima S, Mochida T, Masaki K, Yumoto M. Origin coordinate influence on performance of temporally extended signal space separation in magnetoencephalography. Clin Neurophysiol. 2024 Jul;163:143-151. doi: 10.1016/j.clinph.2024.04.020. Epub 2024 May 6. 
50: Takahashi Y, Sato K, Yamashiro D, Ogawa S, Li Y, Furuya T, Shimizu Y, Cho D, Takahashi T, Suzuki H, Fujiwara Y. Mild cognitive impairment decreases the accuracy of own memory monitoring. Geriatr Gerontol Int. 2024 Mar;24 Suppl 1:407-409. doi: 10.1111/ggi.14809. Epub 2024 Jan 29. 
51: Toho M, Yasunaga M, Masuda Y, Shimura A, Masamoto Y, Sumi K, Muramatsu K, Tsujita M, Mitsuchi S, Yoshioka R, Baba Y, Maekawa H, Kimura T, Hamada M, Toda T, Kurokawa M. Adult T-cell leukemia-lymphoma with neurolymphomatosis successfully controlled by valemetostat: a case report and review of literature. Leuk Lymphoma. 2024 Dec;65(12):1891-1895. doi: 10.1080/10428194.2024.2381646. Epub 2024 Jul 25. 
52: Tsuboyama Y, Takahashi A, Furukawa S, Almansour A, Hamada M, Kubota A, Shimizu J, Kinoshita M, Fujimoto C, Mitsui J, Matsukawa T, Naruse H, Ishiura H, Tsuji S, Toda T. RFC1-related disorder presenting recurrent syncope. J Neurol. 2024 Jul;271(7):4635-4638. doi: 10.1007/s00415-024-12231-5. Epub 2024 Mar 7. Erratum in: J Neurol. 2024 Jul;271(7):4639. doi: 10.1007/s00415-024-12394-1. 
53: Tsukahara Y, Kodama S, Kikuchi S, Day C. Athlete Sleep Screening Questionnaire in Japanese: Adaptation and Validation Study. J Sport Rehabil. 2024 Sep 10;34(2):94-101. doi: 10.1123/jsr.2023-0438. 
54: Ueha R, Koyama M, Seto A, Sato T, Goto T, Orimo K, Mitsui J, Yamasoba T. Esophageal Dysmotility in Multiple System Atrophy: A Retrospective Cross- Sectional Study. J Clin Med. 2024 Aug 25;13(17):5026. doi: 10.3390/jcm13175026. 
55: Yoshioka D, Yamanashi T, Taneda K, Matsukawa T, Orimo K, Iwata M. Idiopathic basal ganglia calcification presenting with obsessive-compulsive symptoms: A case report. PCN Rep. 2024 Jan 18;3(1):e166. doi: 10.1002/pcn5.166. 
​
2023
​1: Aiba I, Hayashi Y, Shimohata T, Yoshida M, Saito Y, Wakabayashi K, Komori T, Hasegawa M, Ikeuchi T, Tokumaru AM, Sakurai K, Murayama S, Hasegawa K, Uchihara T, Toyoshima Y, Saito Y, Yabe I, Tanikawa S, Sugaya K, Hayashi K, Sano T, Takao M, Sakai M, Fujimura H, Takigawa H, Adachi T, Hanajima R, Yokota O, Miki T, Iwasaki Y, Kobayashi M, Arai N, Ohkubo T, Yokota T, Mori K, Ito M, Ishida C, Tanaka M, Idezuka J, Kanazawa M, Aoki K, Aoki M, Hasegawa T, Watanabe H, Hashizume A, Niwa H, Yasui K, Ito K, Washimi Y, Mukai E, Kubota A, Toda T, Nakashima K; J-VAC study group. Clinical course of pathologically confirmed corticobasal degeneration and corticobasal syndrome. Brain Commun. 2023 Nov 3;5(6):fcad296. doi: 10.1093/braincomms/fcad296. 
2: Egashira S, Kubota A, Kakumoto T, Kawasaki R, Kotani R, Sakuishi K, Iwata A, Bae SK, Akamatsu N, Hasegawa K, Tanaka M, Nakamichi K, Saijo M, Toda T. Long-term survival from progressive multifocal leukoencephalopathy in living-donor liver transplant recipient with preformed donor-specific antibody. J Neurovirol. 2023 Oct;29(5):519-523. doi: 10.1007/s13365-023-01171-x. Epub 2023 Sep 5. 
3: Enkhjargal S, Sugahara K, Khaledian B, Nagasaka M, Inagaki H, Kurahashi H, Koshimizu H, Toda T, Taniguchi-Ikeda M. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant. Hum Mol Genet. 2023 Apr 6;32(8):1301-1312. doi: 10.1093/hmg/ddac286. 
4: Hatano K, Orimo K, Ogura M, Okabe S, Ishida T, Kubota A, Shimizu J, Hashida H. Development of Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome after Conversion from Plasmacytoma of Bone to Multiple Myeloma. Intern Med. 2023 Feb 1;62(3):475-479. doi:10.2169/internalmedicine.9101-21. Epub 2022 Jul 14. 
5: Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N. Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations. Angiogenesis. 2023 Feb;26(1):37-52. doi: 10.1007/s10456-022-09846-5. Epub 2022 Jul 29. 
6: Inomata-Terada S, Fukuda H, Tokushige SI, Matsuda SI, Hamada M, Ugawa Y, Tsuji S, Terao Y. Abnormal saccade profiles in hereditary spinocerebellar degeneration reveal cerebellar contribution to visually guided saccades. Clin Neurophysiol. 2023 Oct;154:70-84. doi: 10.1016/j.clinph.2023.07.006. Epub 2023 Jul 31. 
7: Ishiura H, Tsuji S, Toda T. Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder. J Hum Genet. 2023 Mar;68(3):169-174. doi: 10.1038/s10038-022-01116-y. Epub 2023 Jan 20. 
8: Kakumoto T, Matsukawa T, Ishiura H, Mori H, Tsuji S, Toda T. Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy. Ann Clin Transl Neurol. 2023 Jul;10(7):1230-1238. doi: 10.1002/acn3.51818. Epub 2023 May 31. Erratum in: Ann Clin Transl Neurol. 2023 Sep;10(9):1700. doi: 10.1002/acn3.51870. 
9: Kawamoto N, Hamada Y, Kobayashi S, Naruse H, Ishiura H, Matsukawa T, Mitsui J, Tsuji S, Sonoo M, Toda T. Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies. J Peripher Nerv Syst. 2023 Sep;28(3):513-517. doi: 10.1111/jns.12558. Epub 2023 May 22. 
10: Kim K, Shimizu J, Isu T, Morimoto D, Kubota A, Morita A, Murai Y. A clinicopathological study of low back pain due to middle cluneal nerve
entrapment: case series. Eur Spine J. 2024 Feb;33(2):490-495. doi: 10.1007/s00586-023-07944-6. Epub 2023 Nov 4. 
11: Kodama S, Jo T, Yasunaga H, Ohbe H, Michihata N, Matsui H, Okada A, Shirota Y, Fushimi K, Toda T, Hamada M. Perioperative Use of Intravenous Levodopa as an Anti-Parkinsonian Drug: A Propensity Score Analysis. Mov Disord Clin Pract. 2023 Oct 13;10(11):1650-1658. doi: 10.1002/mdc3.13894. 
12: Kubota T, Kodama S, Kuroda N. The prevalence of a false positive diagnosis of epilepsy: A meta-analysis. Seizure. 2023 Jul;109:50-51. doi:
10.1016/j.seizure.2023.05.005. Epub 2023 May 5. PMID: 37220714.
13: Kurihara M, Komatsu H, Sengoku R, Shibukawa M, Morimoto S, Matsubara T, Arakawa A, Orita M, Ishibashi K, Mitsutake A, Shibata S, Ishiura H, Adachi K, Ohse K, Hatano K, Ihara R, Higashihara M, Nishina Y, Tokumaru AM, Ishii K, Saito Y, Murayama S, Kanemaru K, Iwata A. CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease. Neurology. 2023 Mar 7;100(10):e1009-e1019. doi: 10.1212/WNL.0000000000201647. Epub 2022 Dec 14.
14: Kurihara M, Mano T, Eto F, Yao I, Sato K, Ohtomo G, Bannai T, Shibata S, Ishiura H, Ikemura M, Matsubara T, Morishima M, Saito Y, Murayama S, Toda T, Setou M, Iwata A. Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease. Neurobiol Dis. 2023 Feb;177:105989. doi: 10.1016/j.nbd.2023.105989. 
15: Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K. PHACES-like syndrome with TMEM260 compound heterozygous variants. Am J Med Genet A. 2023 Aug;191(8):2215-2218. doi: 10.1002/ajmg.a.63245. Epub 2023 May 14. 
16: Kurokawa R, Kurokawa M, Mitsutake A, Nakaya M, Baba A, Nakata Y, Moritani T, Abe O. Clinical and neuroimaging review of triplet repeat diseases. Jpn J Radiol. 2023 Feb;41(2):115-130. doi: 10.1007/s11604-022-01343-5. Epub 2022 Sep 28. 
17: Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, Giedraitis V, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez- Rodriguez E, Ross OA, Royo LJ, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tan EK, Tegos T, Teunissen C, Thomassen JQ, Tremolizzo L, Vyhnalek M, Verhey F, Waern M, Wiltfang J, Zhang J; EADB; GR@ACE study group; DEGESCO consortium; DemGene; EADI; GERAD; Asian Parkinson’s Disease Genetics consortium; Zetterberg H, Blennow K, He Z, Williams J, Amouyel P,
Jessen F, Kehoe PG, Andreassen OA, Van Duin C, Tsolaki M, Sánchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Zettergren A, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Ozaki K, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Mata I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD, Mignot E.
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proc Natl Acad Sci U S A. 2023 Sep 5;120(36):e2302720120. doi: 10.1073/pnas.2302720120. Epub 2023 Aug 29. 
19: Li D, Johmura Y, Morimoto S, Doi M, Nakanishi K, Ozawa M, Tsunekawa Y, Inoue-Yamauchi A, Naruse H, Matsukawa T, Takeshita Y, Suzuki N, Aoki M,
Nishiyama A, Zeng X, Konishi C, Suzuki N, Nishiyama A, Harris AS, Morita M, Yamaguchi K, Furukawa Y, Nakai K, Tsuji S, Yamazaki S, Yamanashi Y, Shimada S, Okada T, Okano H, Toda T, Nakanishi M. LONRF2 is a protein quality control ubiquitin ligase whose deficiency causes late-onset neurological deficits. Nat Aging. 2023 Aug;3(8):1001-1019. doi: 10.1038/s43587-023-00464-4. Epub 2023 Jul 20. 
18: Masuzawa H, Suzuki F, Amemiya S, Orimo K, Ishiura H, Hara R, Toda T, Nakazawa T, Honda A, Tanaka M, Hinata M, Abe O. A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum. Radiol Case Rep. 2023 Mar 16;18(5):1929-1932. doi: 10.1016/j.radcr.2023.02.025. 
19: Ma K, Hamada M, Di Lazzaro V, Hand B, Guerra A, Opie GM, Goetz SM. Correlating active and resting motor thresholds for transcranial magnetic
stimulation through a matching model. Brain Stimul. 2023 Nov-Dec;16(6):1686-1688. doi: 10.1016/j.brs.2023.11.009. Epub 2023 Nov 21. 
20: Mitsui J, Matsukawa T, Uemura Y, Kawahara T, Chikada A, Porto KJL, Naruse H, Tanaka M, Ishiura H, Toda T, Kuzuyama H, Hirano M, Wada I, Ga T, Moritoyo T, Takahashi Y, Mizusawa H, Ishikawa K, Yokota T, Kuwabara S, Sawamoto N, Takahashi R, Abe K, Ishihara T, Onodera O, Matsuse D, Yamasaki R, Kira JI, Katsuno M, Hanajima R, Ogata K, Takashima H, Matsushima M, Yabe I, Sasaki H, Tsuji S. High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. EClinicalMedicine. 2023 Apr 14;59:101920. doi: 10.1016/j.eclinm.2023.101920. 
21: Mitsutake A, Matsukawa T, Iwata A, Ishiura H, Mitsui J, Mori H, Toya T, Honda A, Kurokawa M, Sakai N, Tsuji S, Toda T. Favorable outcome of
hematopoietic stem cell transplantation in late-onset Krabbe disease. Brain Dev. 2023 Aug;45(7):408-412. doi: 10.1016/j.braindev.2023.04.001. Epub 2023 Apr 18.
22: Nakamura R, Tomizawa I, Iwai A, Ikeda T, Hirayama K, Chiu YW, Suzuki T, Tarutani A, Mano T, Iwata A, Toda T, Sohma Y, Kanai M, Hori Y, Tomita T. Photo-oxygenation of histidine residue inhibits α-synuclein aggregation. FASEB J. 2023 Dec;37(12):e23311. doi: 10.1096/fj.202301533R. 
23: Nakashima S, Hamada M, Kimura T, Tanifuji S, Takahashi A, Yashita D, Kakimoto Y, Matsukawa T, Ishiura H, Toda T. Intraventricular Cerliponase Alfa
Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. Intern Med. 2024 Jun 15;63(12):1807-1812. doi: 10.2169/internalmedicine.2563-23. Epub 2023 Nov 6. 
24: Nakatani-Enomoto S, Hanajima R, Hamada M, Matsumoto H, Terao Y, Jun Groiss S, Murakami T, Abe M, Enomoto H, Kawai K, Kan R, Niwa SI, Yabe H, Ugawa Y. Quadripulse transcranial magnetic stimulation inducing long-term depression in healthy subjects may increase seizure risk in some patients with intractable epilepsy. Clin Neurophysiol Pract. 2023 Jul 7;8:137-142. doi: 10.1016/j.cnp.2023.07.001. 
25: Naruse H, Okubo S, Sudo A, Mitsui J, Mikata T, Ishiura H, Morishita S, Tsuji S, Toda T. Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1. J Peripher Nerv Syst. 2023 Sep;28(3):518-521. doi: 10.1111/jns.12567. Epub 2023 Jun 7. 
26: Okubo S, Mano T, Sudo A, Goto R, Yano S, Hara M, Ishiura H, Satake W, Yanagimoto S, Ogata H, Toda T. Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient. Intern Med. 2024 Feb 15;63(4):565-569. doi: 10.2169/internalmedicine.1919-23. Epub 2023 Jun 28. 
27: Orimo K, Kakumoto T, Hara R, Goto R, Ishiura H, Mitsui J, Yoshida C, Uesaka Y, Suzuki Y, Morishita S, Satake W, Tsuji S, Toda T. A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant. J Neurol Sci. 2023 Aug 15;451:120732. doi: 10.1016/j.jns.2023.120732. Epub 2023 Jul 12.
28: Sato K, Hida A, Niimi Y, Iwata A, Iwatsubo T. [Survey on the Current Advertising and Sales of Mucuna pruriens in Consumer-to-consumer Internet
Trading in Japan]. Yakugaku Zasshi. 2023 Dec 1;143(12):1057-1067. Japanese. doi: 10.1248/yakushi.23-00145. Epub 2023 Oct 13. 
29: Sato K, Niimi Y, Ihara R, Suzuki K, Iwata A, Iwatsubo T. APOE-ε4 allele[s]-associated adverse events reported from placebo arm in clinical trials for Alzheimer's disease: implications for anti-amyloid beta therapy. Front Dement. 2024 Jan 15;2:1320329. doi: 10.3389/frdem.2023.1320329. 
30: Shirota Y, Fushimi M, Sekino M, Yumoto M. Investigating the technical feasibility of magnetoencephalography during transcranial direct current
stimulation. Front Hum Neurosci. 2023 Sep 13;17:1270605. doi: 10.3389/fnhum.2023.1270605. 
31: Takegami N, Mitsutake A, Mano T, Shintani-Domoto Y, Unuma A, Yamaguchi-Takegami N, Ishiura H, Sakuishi K, Ando M, Yamauchi H, Ono M, Morishita S, Mitsui J, Shimizu J, Tsuji S, Toda T. The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation. Intern Med. 2023 Oct 1;62(19):2883-2887. doi: 10.2169/internalmedicine.0992-22. Epub 2023 Feb 15. 
32: Takegami N, Sakuishi K, Yamaguchi-Takegami N, Egashira S, Komaki S, Mutoh T, Toda T. Anti-Lactosylceramide antibody positive combined central peripheral demyelination emerging from long-standing juvenile-onset chronic inflammatory polyradiculoneuropathy; a report of two cases. J Neuroimmunol. 2023 May 15;378:578086. doi: 10.1016/j.jneuroim.2023.578086. Epub 2023 Apr 11. 
33: Takegami N, Hamada M, Yamaguchi-Takegami N, Sakuishi K, Toda T. An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication. Intern Med. 2024 Jan 15;63(2):315-318. doi: 10.2169/internalmedicine.1883-23. Epub 2023 May 24.
34: Takegami N, Matsuda SI, Iizuka M, Yamaguchi-Takegami N, Toda T, Yoshizawa T. A Rare Case of Meningitis Caused by Streptococcus gallolyticus subsp. pasteurianus in an Immunocompetent Young Adult. Intern Med. 2024 Jan 15;63(2):323-326. doi: 10.2169/internalmedicine.1785-23. Epub 2023 May 31. 
35: Takegami N, Murai H, Mori H, Yamaguchi-Takegami N, Toda T, Iwata NK, Goto J. Multiple cortical lesions with grainy enhancement of magnetic resonance imaging in anti-myelin oligodendrocyte glycoprotein (MOG) antibody-associated encephalitis with seizures (FLAMES). J Neurol Sci. 2023 Aug 15;451:120729. doi: 10.1016/j.jns.2023.120729. Epub 2023 Jul 10. 
36: Takegami N, Matsukawa T, Hamada M, Tanifuji S, Tamura T, Yamaguchi-Takegami N, Ishiura H, Mitsui J, Sakuishi K, Tsuji S, Toda T. Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1. Intern Med. 2024 Apr 1;63(7):999-1004. doi: 10.2169/internalmedicine.2240-23. Epub 2023 Aug 9. 
37: Teranishi Y, Miyawaki S, Nakatochi M, Okano A, Ohara K, Hongo H, Ishigami D, Sakai Y, Shimada D, Takayanagi S, Ikemura M, Komura D, Katoh H, Mitsui J, Morishita S, Ushiku T, Ishikawa S, Nakatomi H, Saito N. Meningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype’ tumours characterised by macrophage infiltration. Acta Neuropathol Commun. 2023 Sep 26;11(1):156. doi: 10.1186/s40478-023-01645-3. 
38: Toda T. Genetics of neurological and psychiatric disorders. J Hum Genet. 2023 Mar;68(3):113. doi: 10.1038/s10038-022-01114-0. Epub 2023 Feb 7.
39: Tokushige SI, Matsumoto H, Matsuda SI, Inomata-Terada S, Kotsuki N, Hamada M, Tsuji S, Ugawa Y, Terao Y. Early detection of cognitive decline in
Alzheimer's disease using eye tracking. Front Aging Neurosci. 2023 Mar 21;15:1123456. doi: 10.3389/fnagi.2023.1123456. 
40: Tsukahara Y, Kodama S, Kikuchi S, Day C. Athlete Sleep Behavior Questionnaire in Japanese (ASBQ-J): An Adaptation and Validation Study. Open
Access J Sports Med. 2023 Nov 16;14:89-97. doi: 10.2147/OAJSM.S431820. 
41: Uchigami H, Hamada M, Maekawa H, Ishiura H, Kodama S, Shirota Y, Takahashi M, Momose T, Toda T. Recovery after Prolonged Disturbance of Consciousness and Repeated Cerebral Perfusion Changes in Neuronal Intranuclear Inclusion Disease. Intern Med. 2024 Jan 15;63(2):333-336. doi: 10.2169/internalmedicine.1015-22. Epub 2023 May 31. 
42: Uchio N, Komaki S, Sudo T, Matsumoto Y, Hao A, Kojima K, Toda N, Kitamura A, Maeda MH, Kubota A, Matsumoto H. Anti-nuclear matrix protein 2 antibody-positive dermatomyositis with gastrointestinal ulcers: A case report. Int J Rheum Dis. 2023 Dec;26(12):2572-2575. doi: 10.1111/1756-185X.14755. Epub 2023 Jun 7.
43: Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W,
Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C; MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson’s Disease: The MJFF Global Genetic PD Cohort. Mov Disord. 2023 Feb;38(2):286-303.
doi: 10.1002/mds.29288. Epub 2023 Jan 24. 
44: Yamaguchi-Takegami N, Takahashi A, Mitsui J, Sugiyama Y, Chikada A, Porto KJL, Takegami N, Sakuishi K, Ishiura H, Yamada K, Shimizu J, Tsuji S, Toda T. Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease. Intern Med. 2024 Mar 15;63(6):861-865. doi: 10.2169/internalmedicine.1699-23. Epub 2023 Aug 9. 
45: Yamakawa K, Nishijima H, Kubota A, Naruse H, Baba S, Fujimaki Y, Kondo K, Toda T, Yamasoba T. Clinical and electrophysiological findings of facial palsy in a case of hereditary gelsolin amyloidosis. Auris Nasus Larynx. 2023 Apr;50(2):305-308. doi: 10.1016/j.anl.2022.02.003. Epub 2022 Feb 28. 

2022
1. Kubota A, Shimizu J, Unuma A, Maeda M, Shirota Y, Kadoya M, Uchio N, Sakiyama Y, Arai N, Shiio Y, Uesaka Y, Hashida H, Iwata NK, Goto J, Nakashima R, Mimori T, Toda T. Alanine transaminase is predominantly increased in the active phase of anti-HMGCR myopathy. Neuromuscul Disord. 2022 Jan;32(1):25-32. doi: 10.1016/j.nmd.2021.10.007.
2. Sato K, Iwata A, Kurihara M, Mano T, Toda T. Stress cardiomyopathy (Takotsubo syndrome) in patients who received adrenergic agonist drugs: A pharmacovigilance study using the Japanese Adverse Drug Event Report (JADER) database. J Cardiol. 2022 Jan; 79(1):36-41. doi: 10.1016/ j.jjcc.2021.08.019.
3. Kono M, Komai T, Yuki H, Hanata N, Kakumoto T, Kubota A, Hashimoto Maeda M, Toda T, Shoda H, Fujio K. Anti-Ku antibody-positive myositis presenting as a wide range of axial myopathies and myocarditis: A case report and review of the literature. Mod Rheumatol Case Rep. 2022 Jan 7;6(1):64-68. doi: 10.1093/mrcr/ rxab024.
4. Aizawa H, Kato H, Oba K, Kawahara T, Okubo Y, Saito T, Naito M, Urushitani M, Tamaoka A, Nakamagoe K, Ishii K, Kanda T, Katsuno M, Atsuta N, Maeda Y, Nagai M, Nishiyama K, Ishiura H, Toda T, Kawata A, Abe K, Yabe I, Takahashi-Iwata I, Sasaki H, Warita H, Aoki M, Sobue G, Mizusawa H, Matsuyama Y, Haga T, Kwak S. Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis. J Neurol. 2022 Feb;269(2):885-896. doi: 10.1007/s00415-021-10670-y.
5. Kubota A, Ishiura H, Porto KJL, Tanaka M, Mitsui J, Unuma A, Maki H, Komuro I, Tsuji S, Shimizu J, Toda T. DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism. Neuromuscul Disord. 2022 Mar;32(3):263-269. doi: 10.1016/j.nmd.2021.12.004.
6. Ueda M, Katsuse K, Kakumoto T, Kobayashi S, Ishiura H, Mitsui J, Toda T. A Case of Copper Deficiency in Wilson's Disease with a Normal Zinc Value. Internal med.. 2022 Apr.1; 62(7): 1073-1076. doi.10.2169/internalmedicine.9366- 22.
7. Koto S, Chihara N, Akatani R, Nakano H, Hara A, Sekiguchi K, Matsumoto R, Toda T. Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1–Expressed CD8⁺ T Cells in Multiple Sclerosis. Neurol - Neuroimmunol Neuroinflamm. 2022 Apr.5;9(4): e1166. doi. 10.1212/nxi.0000000000001166
8. Tokuoka H, Imae R, Nakashima H, Manya H, Masuda C, Hoshino S, Kobayashi K, Lefeber DJ, Matsumoto R, Okada T, Endo T, Kanagawa M, Toda T. CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model. Nat Commun. 2022 Apr 14;13(1): 1847. doi: 10.1038/s41467-022-29473-4.
9. Akamatsu M, Yamashita T, Teramoto S, Huang Z, Lynch J, Toda T, Niu L, Kwak S. Testing of the therapeutic efficacy and safety of AMPA receptor RNA aptamers in an ALS mouse model. Life Sci Alliance. 2022 Jan 12;5(4):e202101193. doi: 10.26508/lsa.202101193.
10. Kitagawa K, Arima H, Yamamoto Y, Ueda S, Rakugi H, Kohro T, Yonemoto K, Matsumoto M, Saruta T, Shimada K; Recurrent Stroke Prevention Clinical Outcome (RESPECT) Study Group. Intensive or standard blood pressure control in patients with a history of ischemic stroke: RESPECT post hoc analysis. Hypertens Res. 2022 Apr;45(4):591-601. doi: 10.1038/ s41440-022-00862-y
11. Yamaguchi N, Matsuda S, Matsumoto J, Ugawa Y, Shimizu J, Toda T, Sonoo M, Yoshizawa T. Rippling Muscle Disease with Irregular Toe Jerks and Anti-acetylcholine Receptor Antibodies: Remission after Extended Thymectomy. Intern Med. 2022 May 1;61(9):1439-1442. doi: 10.2169/internalmedicine.8146-21.
12. Naito T, Satake W, Cha PC, Kobayashi K, Murata M, Toda T. Comparative whole transcriptome analysis of Parkinson's disease focusing on the efficacy of zonisamide. J Neurol Neurosurg Psychiatry. 2022 May;93(5):509-512. doi: 10.1136/jnnp-2021-328742.
13. Egawa N, Izumi Y, Suzuki H, Tsuge I, Fujita K, Shimano H, Izumikawa K, Takahashi N, Tsukita K, Enami T, Nakamura M , Watanabe A, Naitoh M, Suzuki S, Seki T, Kobayashi K, Toda T, Kaji R, Takahashi R, Inoue H. TDP-43 regulates cholesterol biosynthesis by inhibiting sterol regulatory element-binding protein 2. Sci Rep. 2022May14; 12(1) :7988. doi.10.1038/s41598- 022-12133-4.
14. Tokimura R, Hashimoto M, MitsutakeA, Sakai S, Suzuki F, Sugasawa K, Fujimoto C, Ishiura H, Toda T. Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease. Neurology ,2022May31;98(22) :938-939. doi.10. 1212/WNL.0000000000200590
15. Oki R, Izumi Y, Fujita K, Miyamoto R, Nodera H, Sato Y, Sakaguchi S, Nokihara H, Kanai K, Tsunemi T, Hattori N, Hatanaka Y, Sonoo M, Atsuta N, Sobue G, Shimizu T, Shibuya K, Ikeda K, Kano O, Nishinaka K, Kojima Y, Oda M, Komai K, Kikuchi H, Kohara N, Urushitani M, Nakayama Y, Ito H, Nagai M, Nishiyama K, Kuzume D, Shimohama S, Shimohata T, Abe K, Ishihara T, Onodera O, Isose S, Araki N, Morita M, Noda K, Toda T, Maruyama H, Furuya H, Teramukai S, Kagimura T, Noma K, Yanagawa H, Kuwabara S, Kaji R; Japan Early-Stage Trial of Ultrahigh-Dose Methylcobalamin for ALS (JETALS) Collaborators. Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial. JAMA Neurol. 2022 Jun 1; 79(6): 575-583. doi: 10.1001/jamaneurol.2022.0901. 
16. Itamiya T, Komai T, Kanda H, Nagafuchi Y, Chang H, Shibata S, Ishiura H, Shoda H, Toda T, Fujio K. Efficacy of canakinumab on AA amyloidosis in late-onset NLRP3-associated autoinflammatory disease with an I574F somatic mosaic mutation. Clin Rheumatol. 2022July1; 41(7): 2233-2237 . doi.10.1007/s10067-022- 06130-1.
17. Kurihara M, Sugiyama Y, Tanaka M, Sato K, Mitsutake A, Ishiura H, Kubota A, Kaori K, Hayashi T, Iwata A, Shimizu J, Murayama K, Tsuji S, Toda T. Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases, Intern Med. 2022July1; 61(13): 1939- 1946 . doi.10.2169/internalmedicine.8629-21.
18. Kikkawa Y, Matsunuma M, Kan R, Yamada Y, Hamada K, Nomizu M, Negishi Y, Nagamori S, Toda T, Tanaka M, Kanagawa M. Laminin α5_CD239_Spectrin is a candidate association that compensates the linkage between the basement membrane and cytoskeleton in skeletal muscle fibers. Matrix Biol Plus. 2022Aug;15: 100118-100118. doi.10.1016/j.mbplus.2022. 100118.
19. Uchigami H, Sato K, Samejima N, Watanabe A, Kuwana N, Tsuchida T, Toda T, Saito M. Preoperative factors associated with shunt responsiveness in patients with idiopathic normal-pressure hydrocephalus. Clinical Neurol Neurosurg. 2022 Aug28;222:107425-107425. doi.10.1016/j.clineuro.2022.107425.
20. Harada R, Taniguchi-Ikeda M, Nagasaka M, Nishii T, Inui A, Yamamoto T, Morioka I, Kuroda R, Iijima K, Nozu K, Sakai Y, Toda T. Assessment of the upper limb muscles in patients with Fukuyama muscular dystrophy: Noninvasive assessment using visual ultrasound muscle analysis and shear wave elastography, Neuromuscul Disord. 2022 Sep;32(9):754-762. doi,10.1016/j.nmd.2022.05.004.
21. Katsuse K, Kenichiro Sato K, Nobuyuki Tanaka N, Idai Uchida I, Tatsushi Toda T, Takashi Mikata T, Yasufumi Motoyoshi Y. Predicting the CTG Repeat Size from a Single Spirometry Test Performed at Any Time during the Disease Course of Myotonic Dystrophy Type 1. Intern Med. 2022;61(15): 281-2286. doi.org/10.2169/ internalmedicine.8633-21.
22. Sekiya H, Suji A, Hashimoto Y, Takata M, Koga S, Nishida K, Futamura N, Kawamoto M, Kohara N, Dickson DW, Kowa H, Toda T. Discrepancy between distribution of alpha-synuclein oligomers and Lewy-related pathology in Parkinson's disease. Acta Neuropathol Commun. 2022Sep.06;10(1): 133-133. doi10.1186/s40478- 022-01440-6
23. Bujo S, Amiya E, Hashimoto-Maeda M, Ishida J, Hatano M, Ishizuka M, Uehara M, Oshima T, Kojima T, Nakanishi K, Daimon M, Shimizu J, Toda T, Komuro I. The effect of immunosuppressive therapy on cardiac involvements in anti-mitochondrial antibody- positive myositis. ESC Heart Fail. 2022Sep.06; 9(6): 4112-4119. doi.10.1002/ehf2.14138.
24. Miller TM, Cudkowicz ME, Genge A, Shaw PJ, Sobue G, Bucelli RC, Chiò A, Van Damme P, Ludolph AC, Glass JD, Andrews JA, Babu S, Benatar M, McDermott CJ, Cochrane T, Chary S, Chew S, Zhu H, Wu F, Nestorov I, Graham D, Sun P, McNeill M, Fanning L, Ferguson TA, Fradette S; VALOR and OLE Working Group. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.N Engl J Med. 2022 Sep 22; 387 (12):1099-1110. doi: 10.1056/NEJMoa2204705.
25. Hara R, Mano T, Yano S, Toda T. Isolated Abducens Nerve Palsy Caused by Anterior Inferior Cerebellar Artery Compression. Intern Med. 2022.Oct1;61(19)2991-2992. doi: 10.2169/ internalmedicine.9294-21.
26. Seki Y, Yamada T, Kiyosue A, Kimura K, Uehara M, Hatano M, Sasako T, Shirota Y, Sudo A, Ishiura H, Toda T, Yamauchi T, Komuro I. Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1. J Cardiology Cases. 2022 Oct;26(4):248-251. doi.10.1016/j. jccase.2022.05.004.
27. Ando T, Riku Y, Akagi A, Miyahara H, Hirano M, Ikeda T, Yabata H, Koizumi R, Oba C, Morozumi S, Yasui K, Goto A, Katayama T, Sakakibara S, Aiba I, Sakai M, Konagaya M, Mori K, Ito Y, Yuasa H, Nomura M, Porto KJL, Mitsui J, Tsuji S, Mimuro M, Hashizume Y, Katsuno M, Iwasaki Y, Yoshida M. Multiple system atrophy variant with severe hippocampal pathology. Brain Pathol. 2022 Jan;32(1):e13002. doi: 10.1111/bpa.13002.
28. Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z.
29. Kokubo Y, Morimoto S, Sasaki R, Hasegawa M, Ishiura H, Tsuji S, Yoshida M, Yamazoe N, Miyazaki M, Kuzuhara S. An immigrant family with Kii amyotrophic lateral sclerosis/ parkinsonism-dementia complex. Neurol Sci. 2022 Feb;43(2):1423-1425. doi: 10.1007/s10072- 021-05737-7.
30. Almansour A, Ishiura H, Mitsui J, Matsukawa T, Matsukawa MK, Shimizu H, Sugiyama A, Toda T, Tsuji S. Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population. Cerebellum. 2022 Dec;21(6): 954-962. doi: 10.1007/s12311-021-01329-5.
31. Hasuike Y, Tanaka H, Gall-Duncan T, Mehkary M, Nakatani K, Pearson CE, Tsuji S, Mochizuki H, Nakamori M. CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral- pallidoluysian atrophy. Neurobiol Dis. 2022 Feb; 163:105604. doi: 10.1016/j.nbd.2021.105604.
32. Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Matsuda N, Yamamoto M, Dohi E, Takahashi M, Yoshino M, Nomura T, Matsushima M, Yabe I, Sanpei Y, Ishiura H, Mitsui J, Nakagawa M, Tsuji S, Takashima H. Elderly patients with suspected Charcot-Marie- Tooth disease should be tested for the TTR gene for effective treatments. J Hum Genet. 2022 Jun; 67(6):353-362. doi: 10.1038/s10038-021-01005- w.
33. Ikenaga C, Date H, Kanagawa M, Mitsui J, Ishiura H, Yoshimura J, Pinal-Fernandez I, Mammen AL, Lloyd TE, Tsuji S, Shimizu J, Toda T, Goto J. Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis. Ann Neurol. 2022 Mar;91(3):317-328. doi: 10.1002/ana.26304.
34. Kodama S, Jo T, Yasunaga H, Michihata N, Matsui H, Kumazawa R, Shirota Y, Fushimi K, Toda T, Hamada M. Outcomes of gastrointestinal cancer surgeries in Parkinson's disease patients: A nationwide study. Parkinsonism Relat Disord. 2022 Mar; 96:45-49. doi: 10.1016/j.parkreldis. 2022.02.002.
35. Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families. J Hum Genet. 2022 Jul;67(7):399-403. doi: 10.1038/s10038-022-01019-y.
36. Hata T, Nan H, Koh K, Ishiura H, Tsuji S, Takiyama Y. A clinical and genetic study of SPG31 in Japan. J Hum Genet. 2022 Jul;67(7): 421-425. doi: 10.1038/s10038-022-01021-4.
37. Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H. Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes. J Neurol. 2022 Aug;269(8): 4129-4140. doi: 10.1007/s00415-022-11026-w.
38. Wenning GK, Stankovic I, Vignatelli L, Fanciulli A, Calandra-Buonaura G, Seppi K, Palma JA, Meissner WG, Krismer F, Berg D, Cortelli P, Freeman R, Halliday G, Höglinger G, Lang A, Ling H, Litvan I, Low P, Miki Y, Panicker J, Pellecchia MT, Quinn N, Sakakibara R, Stamelou M, Tolosa E, Tsuji S, Warner T, Poewe W, Kaufmann H. The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy. Mov Disord. 2022 Jun;37(6):1131-1148. doi: 10.1002/mds.29005.
39. Ando M, Higuchi Y, Yuan JH, Yoshimura A, Kitao R, Morimoto T, Taniguchi T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie- Tooth disease in Japan. Ann Clin Transl Neurol. 2022 May;9(5): 747-755. doi: 10.1002/acn3. 51555.
40. Teranishi Y, Miyawaki S, Nakatomi H, Ohara K, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Morishita S, Tsuji S, Saito N. Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing. Sci Rep. 2022 Jun 9;12(1):9543. doi: 10.1038/s41598-022-13580-9.
41. Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Kojima F, Noguchi Y, Hobara T, Takeuchi M, Takei J, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Okamoto Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible. Biomedicines. 2022 Jun 29;10(7):1546. doi: 10.3390/biomedicines10071546.
42. Yuan JH, Higuchi Y, Ando M, Matsuura E, Hashiguchi A, Yoshimura A, Nakamura T, Sakiyama Y, Mitsui J, Ishiura H, Tsuji S, Takashima H. Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy. Front Neurol. 2022 Aug 17;13:986504. doi: 10.3389/fneur.2022.986504.
43. Matsukawa T, Porto KJL, Mitsui J, Chikada A, Ishiura H, Takahashi Y, Nakamoto FK, Seki T, Shiio Y, Toda T, Tsuji S. Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease. Cerebellum. 2022 Sep 13. doi: 10.1007/s12311- 022-01426-z. Online ahead of print.
44. Sasaki R, Morimoto S, Ozawa F, Okano H, Yoshida M, Ishiura H, Tsuji S, Kuzuhara S, Kokubo Y. APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula. Neurology. 2022 Nov 29;99(22): e2437-e2442. doi: 10.1212/WNL. 0000000000201156.
45. Hama Y, Date H, Fujimoto A, Matsui A, Ishiura H, Mitsui J, Yamamoto T, Tsuji S, Mizusawa H, Takahashi Y. A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity. Cerebellum. 2022 Oct 13. doi: 10.1007/s12311-022-01489-y.
46. Kobayashi R, Naruse H, Kawakatsu S, Iseki C, Suzuki Y, Koyama S, Morioka D, Ishiura H, Mitsui J, Ohta Y, Tsuji S, Toda T, Otani K. Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report. BMC Neurol. 2022 Nov 3;22(1):406. doi: 10.1186/s12883-022-02951-4.
47. Sakai Y, Miyawaki S, Teranishi Y, Okano A, Ohara K, Hongo H, Ishigami D, Shimada D, Mitsui J, Nakatomi H, Saito N. NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas. Cancers (Basel). 2022 Jun 29; 14(13):3183. doi: 10.3390/cancers14133183.
48. Ishigami D, Koizumi S, Miyawaki S, Hongo H, Teranishi Y, Mitsui J, Saito N. Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations. NMC Case Rep J. 2022 May 31;9:139-144. doi: 10.2176/jns-nmc. 2022-0022.
49. Teranishi Y, Okano A, Miyawaki S, Ohara K, Ishigami D, Hongo H, Dofuku S, Takami H, Mitsui J, Ikemura M, Komura D, Katoh H, Ushiku T, Ishikawa S, Shin M, Nakatomi H, Saito N. Clinical significance of NF2 alteration in grade I meningiomas revisited; prognostic impact integrated with extent of resection, tumour location, and Ki-67 index. Acta Neuropathol Commun. 2022 May 15;10(1):76. doi: 10.1186/s40478-022-01377-w.
50. Oike R, Inoue Y, Mitsui J, Ota Y. A case of idiopathic normal pressure hydrocephalus with fragile X-associated tremor/ataxia syndrome. Clin Neurol Neurosurg. 2022 Jul;218:107278. doi: 10.1016/j.clineuro.2022.107278.
51. Yagi H, Takiguchi H, Takeda N, Inuzuka R, Taniguchi Y, Porto KJ, Ishiura H, Mitsui J, Morita H, Komuro I. Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene. Clin Case Rep. 2022 Feb 9;10(2):e05335. doi: 10.1002/ccr3. 5335.
52. Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103.
53. Hatano K, Date H, Ishiura H, Matsukawa T, Tanaka M, Mitsui J, Goto J, Yoshimura J, Doi K, Morishita S, Tsuji S. Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator. Neurol Clin Neurosci. 2022 Jul;10(4):210-217. doi: 10.1111/ncn3.12607.
54. Shirota Y, Otsuka J, Toda T, Hamada M. Neurophysiological differentiation of upper motor neuron damage in neurodegenerative disorders. Clin Neurophysiol Pract. 2022 Sep 23;7:273-278. doi: 10.1016/j.cnp.2022.09.002.
55. Mooney RA, Ni Z, Shirota Y, Chen R, Ugawa Y, Celnik PA. Age-related strengthening of cerebello-cortical motor circuits. Neurobiol Aging. 2022 Oct; 118: 9-12. doi: 10.1016/j. neurobiolaging.2022.04.016.
56. Kuroda N, Kubota T, Horinouchi T, Ikegaya N, Kitazawa Y, Kodama S, Kuramochi I, Matsubara T, Nagino N, Neshige S, Soga T, Takayama Y, Sone D; IMPACT-J EPILEPSY (In-depth Multicenter analysis during Pandemic of Covid19 Throughout Japan for Epilepsy practice) study group; Kanemoto K, Ikeda A, Terada K, Goji H, Ohara S, Hagiwara K, Kamada T, Iida K, Ishikawa N, Shiraishi H, Iwata O, Sugano H, Iimura Y, Higashi T, Hosoyama H, Hanaya R, Shimotake A, Kikuchi T, Yoshida T, Shigeto H, Yokoyama J, Mukaino T, Kato M, Sekimoto M, Mizobuchi M, Aburakawa Y, Iwasaki M, Nakagawa E, Iwata T, Tokumoto K, Nishida T, Takahashi Y, Kikuchi K, Matsuura R, Hamano SI, Fujimoto A, Enoki H, Tomoto K, Watanabe M, Takubo Y, Fukuchi T, Nakamoto H, Kubota Y, Kunii N, Shirota Y, Ishikawa E, Nakasato N, Maehara T, Inaji M, Takagi S, Enokizono T, Masuda Y, Hayashi T. Impact of COVID-19 pandemic on epilepsy care in Japan: A national-level multicenter retrospective cohort study. Epilepsia Open. 2022 May 28;7(3):431-41. doi: 10.1002/epi4.12616.
57. Kuroda N, Akatsu N, Hatano K, Ikegaya N, Katsuse K, Kodama S, Takayama Y, Fujimoto A. Causal relationship between stress and sleep quality and the validity of telemedicine during the COVID-19 lockdown. Epilepsy Behav. 2022 Jan; 126: 108481. doi: 10.1016/j.yebeh.2021. 108481. 
58. Kubota T, Kuroda N, Horinouchi T, Ikegaya N, Kitazawa Y, Kodama S, Kuramochi I, Matsubara T, Nagino N, Neshige S, Soga T, Takayama Y, Sone D. Barriers to telemedicine among physicians in epilepsy care during the COVID-19 pandemic: A national-level cross-sectional survey in Japan. Epilepsy Behav. 2022 Jan;126:108487. doi: 10.1016/j.yebeh.2021.108487.

2021
1. Yau WY, Vandrovcova J, Sullivan R, Chen Z, Zecchinelli A, Cilia R, Duga S, Murray M, Carmona S; Genomics England Research Consortium, Chelban V, Ishiura H, Tsuji S, Jaunmuktane Z, Turner C, Wood NW, Houlden H. Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders. Mov Disord. 2021 Jan;36(1):251-255. doi: 10.1002/mds.28302.
2. Watanabe M, Nakamura Y, Sato S, Niino M, Fukaura H, Tanaka M, Ochi H, Kanda T, Takeshita Y, Yokota T, Nishida Y, Matsui M, Nagayama S, Kusunoki S, Miyamoto K, Mizuno M, Kawachi I, Saji E, Ohashi T, Shimohama S, Hisahara S, Nishiyama K, Iizuka T, Nakatsuji Y, Okuno T, Ochi K, Suzumura A, Yamamoto K, Kawano Y, Tsuji S, Hirata M, Sakate R, Kimura T, Shimizu Y, Nagaishi A, Okada K, Hayashi F, Sakoda A, Masaki K, Shinoda K, Isobe N, Matsushita T, Kira JI. HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data. Sci Rep. 2021 Jan 12;11(1):607. doi: 10.1038/s41598-020-79833-7.
3. Kawai M, Mano T, Naito T, Honda A, Nakai Y, Toyama K, Fujioka Y, Makise N, Haesgawa H, Sakuishi K, Kurokawa M, Toda T. Disseminated necrotizing leukoencephalopathy after allogeneic peripheral blood stem cell transplantation and methotrexate administration. Neurol Clin Neurosci. 2021 Jan;9(1): 155-156.
4. Koh K, Takaki R, Ishiura H, Tsuji S, Takiyama Y. SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. BMC Neurol. 2021 Feb 11;21(1):64. doi: 10.1186/s12883-021-02087-x.
5. Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Yoshimura J, Doi K, Morishita S, Goto J, Toda T, Tsuji S. Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. J Hum Genet. 2021 Mar; 66(3): 237-241. doi: 10.1038/s10038-020-00830-9.
6. Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clin Genet. 2021 Mar;99(3):384-395. doi: 10.1111/cge.13886.
7. Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Sakuishi K, Nakamagoe K, Miyake Z, Tamaoka A, Goto J, Yoshimura J, Doi K, Morishita S, Toda T, Tsuji S. Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. Neurogenetics. 2021Mar;22(1):11-17. doi: 10.1007/s10048-020-00626-1. 
8. Naito T, Suzuki K, Hirata J, Kamatani Y, Matsuda K, Toda T, Okada Y. A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes. Nat Comn 2021 Mar.12;12(1)1639doi:10.1038/s41467-021-21975-x.
9. Sato K, Ihara R, Suzuki K, Niimi Y, Toda T, Jimenez-Maggiora G, Langford O, Donohue MC, Raman R, Aisen PS, Sperling RA, Iwata A, Iwatsubo T. Predicting amyloid risk by machine learning algorithms based on the A4 screen data: Application to the Japanese Trial-Ready Cohort study. Alzheimers Dement (N Y). 2021 Mar 24;7(1):e12135. doi: 10.1002/trc2.12135.
10. Miyazawa A, Kanahara N, Nakata Y, Kodama S, Kimura H, Kimura A, Oda Y, Watanabe H, Iyo M. Clozapine Prolongs Cortical Silent Period in Patients with Treatment-Resistant Schizophrenia. Psychopharmacol Bull. 2021 Mar 16;51(2):20-30. 
11. Taniguchi T, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Hashiguchi A, Shiga K, Hayashida A, Hatano T, Ishiura H, Mitsui J, Hattori N, Mizuno T, Nakagawa M, Tsuji S, Takashima H. Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan. Clin Genet. 2021 Mar;99(3):359-375. doi: 10.1111/cge.13881.
12. Okano A, Miyawaki S, Hongo H, Dofuku S, Teranishi Y, Mitsui J, Tanaka M, Shin M, Nakatomi H, Saito N. Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges. Sci Rep. 2021 Mar 26;11(1):6987. doi: 10.1038/s41598-021-86298-9.
13. Sato K, Mano T, Iwata A, Toda T. Disproportionality by sex in the prescription of drugs capable of inducing parkinsonism for the elderly: A survey using statistics of Japanese national health claims from 2014 to 2017. Neurology and Clinical Neuroscience. 2021 May:9(3):211-217. doi:10.1111/ncn3.12501
14. Ueha R, Sato T, Goto T, Yamauchi A, Nativ-Zeltzer N, Mitsui J, Belafsky PC, Yamasoba T. Esophageal Dysmotility is Common in Patients With Multiple System Atrophy. Laryngoscope. 2021 Apr;131(4):832-838. doi: 10.1002/lary.28852.
15. Shibata Y, Matsushima M, Matsukawa T, Ishiura H, Tsuji S, Yabe I. Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. J Hum Genet. 2021 May;66(5):535-537. doi: 10.1038/s10038-020-00866-x.
16. Hashimoto Y, Mitsui J, Ishiura H, Matsukawa T, TodaT, Kakisu K, Hori Y,Nakagawa S, Toyono T, Yoshida J, Usui T, Yamagami S, Aihara M, Miyai T. A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation. SN Comprehensive Clinical Medicine.2021 June5;3:2029-2032.doi: 10.1007/s42399-021-00962-9
17. Mano T, Sato K, Ikeuchi T, Toda T, Iwatsubo T, Iwata A. Peripheral Blood BRCA1 Methylation Positively Correlates with Major Alzheimer's Disease Risk Factors. J Prev Alzheimers Dis. 2021June9;8(4):477-482. doi: 10.14283/jpad.2021.31.
18. Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neuro-gastrointestinal encephalomyopathy. Brain. 2021 June 22;144(5):1451-1466. doi: 10.1093/brain/awab056. 
19. Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041.
20. Seike N, Yokoseki A, Takeuchi R, Saito K, Miyahara H, Miyashita A, Ikeda T, Aida I, Nakajima T, Kanazawa M, Wakabayashi M, Toyoshima Y, Takahashi H, Matsumoto R, Toda T, Onodera O, Ishikawa A, Ikeuchi T, Kakita A. Genetic Variations and Neuropathologic Features of Patients With PRKN Mutations. Mov Disord. 2021 Jul;36(7):1634-1643. doi: 10.1002/mds.28521. 
21. Sato K, Mano T, Iwata A, Toda T. Need of care in interpreting Google Trends-based COVID-19 infodemiological study results: potential risk of false-positivity. BMC Med Res Methodol. 2021 Jul 18;21(1):147. doi: 10.1186/s12874-021-01338-2.
22. Sato K, Niimi Y, Ihara R, Suzuki K, Toda T, Iwata A, Iwatsubo T. Efficacy and Cost-effectiveness of Promotion Methods to Recruit Participants to an Online Screening Registry for Alzheimer Disease Prevention Trials: Observational Study. J Med Internet Res. 2021 Jul 22;23(7):e26284. doi: 10.2196/26284.
23. Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A. Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes. JAMA Neurol. 2021 Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509.
24. Sato K, Mano T, Ihara R, Suzuki K, Niimi Y, Toda T, Iwatsubo T, Iwata A. Cohort-Specific Optimization of Models Predicting Preclinical Alzheimer's Disease, to Enhance Screening Performance in the Middle of Preclinical Alzheimer's Disease Clinical Studies. J Prev Alzheimers Dis. 2021Aug 2;8(4):503-512. doi: 10.14283/jpad.2021.39.
25. Takeda N, Inuzuka R, Yagi H, Morita H, Ando M, Yamauchi H, Taniguchi Y, Porto KJ, Kanaya T, Ishiura H, Mitsui J, Tsuji S, Toda T, Ono M, Komuro I,Clinical Impact of Copy Number Variation on the Genetic Diagnosis of Syndromic Aortopathies. Circ Genom Precis Med. 2021 Aug;14(4):e003458. doi: 10.1161/CIRCGEN.121.003458. 
26. Naito T, Satake W, Ogawa K, Suzuki K, Hirata J, Foo JN, Tan EK, Toda T, Okada Y. Trans-Ethnic Fine-Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease. Mov Disord. 2021 Aug;36(8):1805-1814. doi: 10.1002/mds.28583. 
27. Katsuse K, Kodama S, Okazaki K, Toda T. Delayed Brachial Plexus Palsy after Clavicular Fracture. Intern Med. 2021 Aug 1;60(15):2511-2512. doi: 10.2169/internalmedicine.6988-20.
28. Chen XY, Song DY, Jiang L, Tan DD, Liu YD, Liu JY, Chang XZ, Xing GG, Toda T, Xiong H. Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycano-pathy. Front Genet. 2021 Aug 3;12:692479. doi: 10.3389/fgene.2021.692479. 
29. Sato K, Mano T, Iwata A, Toda T. Safety of Memantine in Combination with Potential-ly Interactive Drugs in the Real World: A Pharmacovigilance Study Using the Japanese Adverse Drug Event Report (JADER) Database. J Alzheimers Dis. 2021Aug 3;82(3):1333-1344. doi: 10.3233/JAD-210524.
30. Ishigami D, Miyawaki S, Nakatomi H, Takayanagi S, Teranishi Y, Ohara K, Hongo H, Dofuku S, Kin T, Abe H, Mitsui J, Komura D, Katoh H, Ishikawa S, Saito N. Brainstem intraparenchymal schwannoma with genetic analysis: a case report and literature review. BMC Med Genomics. 2021 Aug 18;14(1):205. doi: 10.1186/s12920-021-01049-z.
31. Taniguchi-Ikeda M, Koyanagi-Aoi M, Maruyama T, Takaori T, Hosoya A, Tezuka H, Nagase S, Ishihara T, Kadoshima T, Muguruma K, Ishigaki K, Sakurai H, Mizoguchi A, Novitch BG, Toda T, Watanabe M, Aoi T. Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy. iScience. 2021 Sep 17;24(10):103140. doi: 10.1016/j.isci.2021.103140.
32. Sato K, Mano T, Niimi Y, Iwata A, Toda T, Iwatsubo T. The impact of COVID-19 pandemic on the utilization of ambulatory care for patients with chronic neurological diseases in Japan: Evaluation of an administrative claims database. Biosci Trends. 2021 Sep 22;15(4):219-230. doi: 10.5582/bst.2021.01194.
33. Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S. Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature. J Mol Neurosci. 2021 Sep;71(9):1796-1801.
34. Sato K, Mano T, Niimi Y, Toda T, Iwata A, Iwatsubo T. Facial nerve palsy following the administration of COVID-19 mRNA vaccines: analysis of a self-reporting database. Int J Infect Dis. 2021 Oct;111:310-312. doi: 10.1016/j.ijid.2021.08.071.
35. Mitsutake A, Nagashima Y, Mori H, Sawamura H, Toda T. Paracentral homonymous hemianopic scotoma caused by anterior choroidal artery infarction. QJM. 2021 Oct 7;114(6):417-418. doi: 10.1093/qjmed/hcab031.
36. Porto KJ, Hirano M, Mitsui J, Chikada A, Matsukawa T, Ishiura H; Japan Multiple System Atrophy Registry Consortium, Toda T, Kusunoki S, Tsuji S. COQ2 V393A confers high risk susceptibility for multiple system atrophy in East Asian population. J Neurol Sci. 2021 Oct 15;429:117623. doi: 10.1016/j.jns.2021.117623. 
37. Neshige S, Hitomi T, Tojima M, Oi K, Kobayashi K, Matsuhashi M, Shimotake A, Matsumoto R, Kanda M, Maruyama H, Ishiura H, Tsuji S, Takahashi R, Ikeda A. A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients. Mov Disord. 2021 Oct;36(10):2446-2448. doi: 10.1002/mds.28718.
38. Teranishi Y, Miyawaki S, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Nakatomi H, Morishita S, Tsuji S, Saito N. Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2. J Med Genet. 2021 Oct;58(10):701-711. doi: 10.1136/jmedgenet-2020-106973.
39. Kainaga M, Shirota Y, Kodama S, Toda T, Hamada M. Effects of the Coronavirus Disease 2019 Pandemic on Motor Symptoms in Parkinson's Disease: An Observational Study. Mov Disord. 2021 Nov;36(11):2461-2463. doi: 10.1002/mds.28766. 
40. Kakumoto T, Kobayashi S, Yuuki H, Kainaga M, Shirota Y, Hamada M, Hashimoto Maeda M, Kubota A, Kawai M, Saito M, Ishiura H, Toda T. Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome. Intern Med. 2021 Nov 1;60(21): 3477-3480. doi: 10.2169/internalmedicine.7355-21.
41. Mitsutake A, Unuma A, Kawai M, Kubota A, Ishiura H, Sakuishi K, Shimizu J, Maki H, Amiya E, Hatano M, Komuro I, Tsuji S, Toda T. Severe dilated cardiomyopathy and ventricular arrhythmia in a Patient with Emery-Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD. Neurol Clin Neurosci. 2021 Nov;9:490-493.doi:10.1111/ncn3.12552
42. Almansour A, Ishiura H, Mitsui J, Matsukawa T, Matsukawa MK, Shimizu H, Sugiyama A, Toda T, Tsuji S. Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population. Cerebellum. 2021 Nov 29. doi: 10.1007/s12311-021-01329-5. 
43. Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Toda T, Tsuji S. Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):576-578. doi: 10.1080/21678421.2020.1813312.
44. Mochizuki H, Aoki M, Ikenaka K, Inoue H, Iwatsubo T, Ugawa Y, Okazawa H, Ono K, Onodera O, Kitagawa K, Saito Y, Shimohata T, Takahashi R, Toda T, Nakahara J, Matsumoto R, Mizusawa H, Mitsui J, Murayama S, Katsuno M; Future Vision Committee of Japanese Society of Neurology, Aoki Y, Ishiura H, Izumi Y, Koike H, Shimada H, Takahashi Y, Tokuda T, Nakajima H, Hatano T, Misawa S, Watanabe H. [Recommendations (Proposal) for promoting research for overcoming neurological diseases 2020]. Rinsho Shinkeigaku. 2021 Nov 24;61(11):709-721. doi: 10.5692/clinicalneurol.cn-001639.
45. Kuroda N, Kubota T, Horinouchi T, Ikegaya N, Kitazawa Y, Kodama S, Matsubara T, Nagino N, Neshige S, Soga T, Sone D, Takayama Y, Kuramochi I; IMPACT-J EPILEPSY (In-depth Multicenter analysis during Pandemic of Covid19 Throughout Japan for Epilepsy practice) study group. Risk factors for psychological distress in electroencephalography technicians during the COVID-19 pandemic: A national-level cross-sectional survey in Japan. Epilepsy Behav. 2021 Dec;125:108361. doi: 10.1016/j.yebeh.2021.108361. 
46. Watanabe N, Nakano M, Mitsuishi Y, Hara N, Mano T, Iwata A, Murayama S, Suzuki T, Ikeuchi T, Nishimura M. Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain. Hum Mol Genet. 2021 Dec 17;31(1):122-132. doi: 10.1093/hmg/ddab226.

2020
1. Kodama S, Tokushige SI, Sugiyama Y, Sato K, Otsuka J, Shirota Y, Hamada M, Iwata A, Toda T, Tsuji S, Terao Y. Rituximab improves not only back stiffness but also "stiff eyes" in stiff person syndrome: Implications for immune-mediated treatment. J Neurol Sci. 2020 Jan 15;408:116506. doi: 10.1016/j.jns.2019.116506.
2. Kuwabara N, Imae R, Manya H, Tanaka T, Mizuno M, Tsumoto H, Kanagawa M, Kobayashi K, Toda T, Senda T, Endo T, Kato R. Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy. Nat Commun. 2020 Jan 16;11(1):303. doi: 10.1038/s41467-019-14220-z.
3. Koshi-Mano K, Mano T, Morishima M, Murayama S, Tamaoka A, Tsuji S, Toda T, Iwata A. Neuron-specific analysis of histone modifications with post-mortem brains. Sci Rep. 2020 Feb 28;10(1):3767. doi: 10.1038/s41598-020-60775-z.
4. Seki T, Kanagawa M, Kobayashi K, Kowa H, Yahata N, Maruyama K, Iwata N, Inoue H, Toda T. Galectin 3-binding protein suppresses amyloid-β production by modulating β-cleavage of amyloid precursor protein. J Biol Chem. 2020 Mar 13;295(11):3678-3691. doi: 10.1074/jbc.RA119.008703.
5. Kurihara M, Sasaki T, Sakuishi K, Terao Y, Murakawa T, Shinozaki-Ushiku A, Okada S, Toda T, Tsuji S. Isolated seizure as initial presentation of GABAA receptor antibody-associated encephalitis. J Neurol Sci. 2020 Mar 15;410:116666. doi: 10.1016/j.jns.2020.116666.
6. Nishizawa M, Onodera O, Hirakawa A, Shimizu Y, Yamada M; Rovatirelin Study Group. Effect of rovatirelin in patients with cerebellar ataxia: two randomised double-blind placebo-controlled phase 3 trials. J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):254-262. doi: 10.1136/jnnp-2019-322168.
7. Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. Intern Med. 2020 Mar 15;59(6):839-842. doi: 10.2169/internalmedicine.3661-19.
8. Oji Y, Hatano T, Ueno SI, Funayama M, Ishikawa KI, Okuzumi A, Noda S, Sato S, Satake W, Toda T, Li Y, Hino-Takai T, Kakuta S, Tsunemi T, Yoshino H, Nishioka K, Hattori T, Mizutani Y, Mutoh T, Yokochi F, Ichinose Y, Koh K, Shindo K, Takiyama Y, Hamaguchi T, Yamada M, Farrer MJ, Uchiyama Y, Akamatsu W, Wu YR, Matsuda J, Hattori N. Variants in saposin D domain of prosaposin gene linked to Parkinson's disease. Brain. 2020 Apr 1;143(4):1190-1205. doi: 10.1093/brain/awaa064.
9. Song D, Fu X, Ge L, Chang X, Wei C, Liu J, Yang H, Qu S, Bao X, Toda T, Wu X, Xiong H. A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients. Clin Genet. 2020 May;97(5):789-790. doi: 10.1111/cge.13695.
10. Sato K, Mano T, Iwata A, Toda T. Neuropsychiatric adverse events of chloroquine: a real-world pharmaco¬vigi-lance study using the FDA Adverse Event Reporting System (FAERS) database. Biosci Trends. 2020 May 21;14(2):139-143. doi: 10.5582/bst.2020.03082.
11. Morioka S, Sakaguchi H, Mohri H, Taniguchi-Ikeda M, Kanagawa M, Suzuki T, Miyagoe-Suzuki Y, Toda T, Saito N, Ueyama T. Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy. PLoS Genet. 2020 May 26;16(5): e1008826. doi: 10.1371/journal.pgen.1008826.
12. Minakawa EN, Popiel HA, Tada M, Takahashi T, Yamane H, Saitoh Y, Takahashi Y, Ozawa D, Takeda A, Takeuchi T, Okamoto Y, Yamamoto K, Suzuki M, Fujita H, Ito C, Yagihara H, Saito Y, Watase K, Adachi H, Katsuno M, Mochizuki H, Shiraki K, Sobue G, Toda T, Wada K, Onodera O, Nagai Y. Arginine is a disease modifier for polyQ disease models that stabilizes polyQ protein conformation. Brain. 2020 Jun 1;143(6):1811-1825. doi: 10.1093/brain/awaa115.
13. Foo JN, Chew EGY, Chung SJ, Peng R, Blauwendraat C, Nalls MA, Mok KY, Satake W, Toda T, Chao Y, Tan LCS, Tandiono M, Lian MM, Ng EY, Prakash KM, Au WL, Meah WY, Mok SQ, Annuar AA, Chan AYY, Chen L, Chen Y, Jeon BS, Jiang L, Lim JL, Lin JJ, Liu C, Mao C, Mok V, Pei Z, Shang HF, Shi CH, Song K, Tan AH, Wu YR, Xu YM, Xu R, Yan Y, Yang J, Zhang B, Koh WP, Lim SY, Khor CC, Liu J, Tan EK. Identification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study. JAMA Neurol. 2020 Jun 1; 77(6): 746-754. doi: 10.1001/jamaneurol.2020.0428.
14. Porto, K-J, Matsukawa T, Ishiura, H, Mitsui J, Matic A, Yu J-M, Dominguez J, Damian L, Toda T, Tsuji S. A novel mutation in ABCD1 gene in a Filipino patient with Adult-Onset X-linked ALD. Neurol Clin Neurosci. 2020 June21;8(5):329-331. doi:10.1111/ncn3.12425.
15. Sato K, Mano T, Suzuki K, Toda T, Iwatsubo T, Iwata A; for Alzheimer’s Disease Neuroimaging Initiative. Attempt to Predict A/T/N-Based Alzheimer's Disease Cerebrospinal Fluid Biomarkers Using a Peripheral Blood DNA Methylation Clock. J Alzheimers Dis Rep. 2020 Jul 23;4(1):287-296. doi: 10.3233/ADR-200205.
16. Tamura T, Kodama S, Kitamura A, Toda T. Transient Peri-ictal Edema around Calcified Neurocysticercosis Lesions. Intern Med. 2020 Aug 1;59(15):1921-1922. doi: 10.2169/internalmedicine.4486-20.
17. Cha PC, Satake W, Ando-Kanagawa Y, Yamamoto K, Murata M, Toda T. Genome-wide association study identifies zonisamide responsive gene in Parkinson's disease patients. J Hum Genet. 2020 Aug;65(8):693-704. doi: 10.1038/s10038-020-0760-8.
18. Nakamura N, Tsunoda K, Mitsutake A, Shibata S, Mano T, Nagashima Y, Ishiura H, Iwata A, Toda T, Tsuji S, Sawamura H. Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC Gene. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):27. doi: 10.1167/iovs.61.11.27.
19. Uchio N, Unuma A, Kakumoto T, Osaki M, Zenke Y, Sakuta K, Kubota A, Uesaka Y, Toda T, Shimizu J. Pembrolizumab on pre-existing inclusion body myositis: a case report. BMC Rheumatol. 2020 Sep 16; 4:48. doi: 10.1186/s41927-020-00144-5.
20. Porto K-J, Mitsui, J , Ishiura H, Kubota A, Luspian, Kathleen Jaye; Emmanuel E, Ludwig D, Toda T, Tsuji S. A novel multi-exon deletion in the dysferlin gene of a limb-girdle musculat dystrophy type 2B Filipino patient. Neurol Clin Neurosci. 2020 Sep26;8(6):419-421. doi:10.1111/ncn3.12453.
21. Matsukawa T, Shoji H, Urasaki Y, Ishiura H, Mitsui J, Oguri S, Tsuji S, Toda T. Novel variant of CSF1R in a sporadic case with early-onset cognitive impairment. Neurol Clin Neurosci. 2020 Sep26; 8(6):430-432. doi:10.1111/ncn3.12452.
22. Tsuji Y, Ueda T, Sekiguchi K, Nishiyama M, Kanda F, Nishigori C, Toda T, Matsumoto R. Progressive length-dependent poly-neuropathy in xeroderma pigmentosum group A. Muscle Nerve. 2020 Oct;62(4):534-540. doi: 10.1002/mus.27028.
23. Hirano M, Satake W, Moriyama N, Saida K, Okamoto N, Cha PC, Suzuki Y, Kusunoki S, Toda T. Bardet-Biedl syndrome and related disorders in Japan. J Hum Genet. 2020 Oct;65(10):847-853. doi: 10.1038/s10038-020-0778-y.
24. Sato K, Mano T, Iwata A, Toda T. Autocorrelation-based method to identify disordered rhythm in Parkinson's disease tasks: A novel approach applicable to multimodal devices. PLoS One. 2020 Oct 8;15(10):e0238486. doi: 10.1371/journal.pone.0238486. eCollection 2020.
25. Kawai M, Mano T, Naito T, Honda A, Nakai Y, Toyama K, Fujioka Y, Makise N, Hasegawa H,Sakuishi K, Kurokawa M, Toda T. Disseminated necrotizing leuko-encephalopathy after allogeneic peripheral blood stem cell transplantation and methotrexate administration. Neurol Clin Neurosci. 2020Nov05;9(1):155-156. doi:10.1111/ncn3.12466.
26. Mitsutake A, Matsukawa T, Porto KJL, Sato T, Katsumata J, Seki T, Maekawa R, Hideyama T, Tanaka M, Ishiura H, Toda T, Tsuji S, Shiio Y. A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis. J Neurol Sci. 2020 Nov 15;418:117091. doi: 10.1016/j.jns.2020.117091.
27. Ueda K, Seto A, Mano T, Toda T. Isolated Body Lateropulsion in Supplementary Motor Area Infarction. Intern Med. 2 2020 Dec 1; 59(23): 3113-3114. doi: 10.2169/internalmedicine.5320-20.
28. Kobayashi R, Naruse H, Koyama S, Kawakatsu S, Hayashi H, Ishiura H, Mitsui J, Ohta Y, Toda T, Tsuji S, Otani K. Familial dementia with Lewy bodies with VPS13C mutations. Parkinsonism Relat Disord. 2020 Dec; 81: 31-33. doi: 10.1016/j.parkreldis.2020.10.008.
29. Chen XY, Song DY, Fan YB, Tan DD, Chang XZ, Xiao JX, Toda T, Xiong H. Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. Chin Med J (Engl). 2020 Dec 7. doi: 10.1097/CM9.0000000000001283. 
30. Chikada A, Mitsui J, Matsukawa T, Ishiura H, Toda T, Ogata K, Goto J, Wenning GK, Tsuji S. Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale. Neurol Clin Neurosci. 2020 Dec31;9(2):171-180.doi:10.1111/ncn3.12477.
31. Sakurai Y, Kakumoto T, Takenaka Y, Matsumoto H. Asymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area. Neurocase. 2020 Dec;26(6):328-339. doi: 10.1080/13554794.2020.1831546. PMID: 33103577.
32. Odake Y, Koh K, Takiyama Y, Ishiura H, Tsuji S, Yamada M, Yoshita M. Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. Neurol Genet 2020;6:e514.
33. Shibata Y, Matsushima M, Matsukawa T, Ishiura H, Tsuji S, Yabe I. Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review. J Hum Genet 2020 in press. doi: 10.1038/s10038-020-00866-x.
34. Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T. Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. Diabetes Res Clin Pract 2020;169:108461.
35. Hongo H, Miyawaki S, Imai H, Shimizu M, Yagi S, Mitsui J, Ishiura H, Yoshimura J, Doi K, Qu W, Teranishi Y, Okano A, Ono H, Nakatomi H, Shimizu T, Morishita S, Tsuji S, Saito N. Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis. Sci Rep 2020;10:11942.
36. Yoshida M, Hayashi T, Fujii K, Ishiura H, Tsuji S, Sakurai Y. Selective impairment of On-reading (Chinese-style pronunciation) in alexia with agraphia for kanji due to subcortical hemorrhage in the left posterior middle temporal gyrus. Neurocase 2020;26:220–226.
37. Terao Y, Matsuda SI, Ishiura H, Tsuji S, Yamamoto T, Fukuda H, Ugawa Y. Do eye movements "age" earlier in progeria? Clin Neurophysiol 2020;131:1835–1836.
38. Lim SY, Ishiura H, Ramli N, Shibata S, Almansour MA, Tan AH, Houlden H, Lang AE, Tsuji S. Adult-onset neuronal intra-nuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients. Parkinsonim Relat Disord 2020;74:25–27.
39. Nakamura-Shindo K, Ono K, Koh K, Ishiura H, Tsuji S, Takiyama Y, Yamada M. A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report. eNeurologicalSci 2020;19:100238.
40. Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K. An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support. Neuropathology 2020;40:379–388.
41. Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, Takashima H. J Peripher Nerv Syst 2020;25:125–131.
42. Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. Mol Genet Genomic Med 2020;8:e1108.
43. Matsukawa T, Shoji H, Urasaki Y, Ishiura H, Mitsui J, Oguri S, Tsuji S, Toda T. Novel variant of CSF1R in sporadic case with early-onset cognitive impairment. Neurol Clin Neurosci 2020;8:430–432.
44. Heng HM, Lu MK, Chou LW, Meng NH, Huang HC, Hamada M, Tsai CH, Chen JC. Changes in Balance, Gait and Electro-encephalography Oscillations after Robot-Assisted Gait Training: An Exploratory Study in People with Chronic Stroke. Brain Sci. 2020 Nov 6;10(11):821. doi: 10.3390/brainsci10110821.
45. Sadnicka A, Hamada M. Plasticity and dystonia: a hypothesis shrouded in variability. Exp Brain Res. 2020 Aug;238(7-8):1611-1617.
46. Shimizu T, Hanajima R, Shirota Y, Tsutsumi R, Tanaka N, Terao Y, Hamada M, Ugawa Y. Plasticity induction in the pre-supplementary motor area (pre-SMA) and SMA-proper differentially affects visuomotor sequence learning. Brain Stimul. 2020 Jan-Feb;13(1):229-238

| 2019年以前の業績

2019
1: Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA,Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. 
2: Sato K, Mano T, Iwata A, Toda T. Neurological and related adverse events in immune checkpoint inhibitors: a pharmacovigilance study from the Japanese Adverse Drug Event Report database. J Neurooncol. 2019 Oct;145(1):1-9. 
3: Nagayama H, Kano O, Murakami H, Ono K, Hamada M, Toda T, Sengoku R, Shimo Y, Hattori N. Effect of istradefylline on mood disorders in Parkinson's disease. J Neurol Sci. 2019 Jan 15;396:78-83. 
4: Otsuka I, Akiyama M, Shirakawa O, Okazaki S, Momozawa Y, Kamatani Y, Izumi T, Numata S, Takahashi M, Boku S, Sora I, Yamamoto K, Ueno Y, Toda T, Kubo M, Hishimoto A. Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population. Neuropsychopharmacology. 2019 Nov ;44(12):2119-2124. 
5: Kurihara M, Mano T, Saito Y, Murayama S, Toda T, Iwata A. Colocalization of BRCA1 with Tau Aggregates in Human Tauopathies. Brain Sci. 2019 Dec 20;10(1):7. 
6: Endo H, Shimada H, Sahara N, Ono M, Koga S, Kitamura S, Niwa F, Hirano S, Kimura Y, Ichise M, Shinotoh H, Zhang MR, Kuwabara S, Dickson DW, Toda T, Suhara T, Higuchi M. In vivo binding of a tau imaging probe, [¹¹ C]PBB3, in patients with progressive supranuclear palsy. Mov Disord. 2019 May;34(5):744-754. 
7: Ujihara Y, Kanagawa M, Mohri S, Takatsu S, Kobayashi K, Toda T, Naruse K, Katanosaka Y. Elimination of fukutin reveals cellular and molecular pathomechanisms in muscular dystrophy-associated heart failure. Nat Commun. 2019 Dec 17;10(1):5754. 
8: Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. Intern Med. 2020 Mar 15;59(6):839-842. 
9: Katsuse K, Kurihara M, Sugiyama Y, Kodama S, Takahashi M, Momose T, Yumoto M, Kaneko K, Takahashi T, Kubota A, Hayashi T, Toda T. Aphasic status epilepticus preceding tumefactive left hemisphere lesion in anti-MOG antibody associated disease. Mult Scler Relat Disord. 2019 Jan;27:91-94. 
10: Sato K, Mano T, Matsuda H, Senda M, Ihara R, Suzuki K, Arai H, Ishii K, Ito K, Ikeuchi T, Kuwano R, Toda T, Iwatsubo T, Iwata A; Japanese Alzheimer's Disease Neuroimaging Initiative. Visualizing modules of coordinated structural brain atrophy during the course of conversion to Alzheimer's disease by applying methodology from gene co-expression analysis. Neuroimage Clin. 2019;24:101957.
11: Bujo S, Amiya E, Kojima T, Yamada S, Maki H, Ishizuka M, Uehara M, Hosoya Y, Hatano M, Kubota A, Toda T, Komuro I. Variable Cardiac Responses to Immunosuppressive Therapy in Anti-Mitochondrial Antibody-Positive Myositis. Can J Cardiol. 2019 Nov;35(11):1604.e9-1604.e12.
12: Sekiya H, Kowa H, Koga H, Takata M, Satake W, Futamura N, Funakawa I, Jinnai K, Takahashi M, Kondo T, Ueno Y, Kanagawa M, Kobayashi K, Toda T. Wide distribution of alpha-synuclein oligomers in multiple system atrophy brain detected by proximity ligation. Acta Neuropathol. 2019 Mar;137(3):455-466.
13: Kodama S, Tokushige SI, Sugiyama Y, Sato K, Otsuka J, Shirota Y, Hamada M, Iwata A, Toda T, Tsuji S, Terao Y. Rituximab improves not only back stiffness but also "stiff eyes" in stiff person syndrome: Implications for immune-mediated treatment. J Neurol Sci. 2020 Jan 15;408:116506.
14: Akatani R, Chihara N, Tachibana H, Koto S, Kowa H, Kanda F, Matsumoto R, Toda T. Validation of the Guy's Neurological Disability Scale as a screening tool for cognitive impairment in multiple sclerosis. Mult Scler Relat Disord. 2019 Oct;35:272-275.
15: Sato K, Mano T, Iwata A, Toda T. Subtype-Dependent Reporting of Stroke With SGLT2 Inhibitors: Implications From a Japanese Pharmacovigilance Study. J Clin Pharmacol. 2019 in press.
16: Sugawara Y, Hamada K, Yamada Y, Kumai J, Kanagawa M, Kobayashi K, Toda T, Negishi Y, Katagiri F, Hozumi K, Nomizu M, Kikkawa Y. Characterization of dystroglycan binding in adhesion of human induced pluripotent stem cells to laminin-511 E8 fragment. Sci Rep. 2019 Sep 10;9(1):13037. 
17: Naruse H, Matsukawa T, Ishiura H, Mitsui J, Takahashi Y, Takano H, Goto J, Toda T, Tsuji S. Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. Neurogenetics. 2019 May;20(2):65-71. 
18: Kodama S, Shirota Y, Hagiwara A, Otsuka J, Sato K, Sugiyama Y, Mori H, Watanabe M, Hamada M, Toda T. Multinodular and vacuolating neuronal tumor (MVNT): A presumably incidental and asymptomatic case in an intractable epilepsy patient. Clin Neurophysiol Pract. 2019 Jul 16;4:164-167. 
19: Niimi Y, Ito S, Mizutani Y, Murate K, Shima S, Ueda A, Satake W, Hattori N, Toda T, Mutoh T. Altered regulation of serum lysosomal acid hydrolase activities in Parkinson's disease: A potential peripheral biomarker? Parkinsonism Relat Disord. 2019 Apr;61:132-137.
20: Ando J, Fujisawa KK, Hiraishi K, Shikishima C, Kawamoto T, Nozaki M, Yamagata S, Takahashi Y, Suzuki K, Someya Y, Ozaki K, Deno M, Tanaka M, Sasaki S, Toda T, Kobayashi K, Sakagami M, Okada M, Kijima N, Takizawa R, Murayama K. Psychosocial Twin Cohort Studies in Japan: The Keio Twin Research Center (KoTReC). Twin Res Hum Genet. 2019 Dec;22(6):591-596.
21: Sato K, Toda T, Iwata A. Fragility Index in Randomized Controlled Trials of Ischemic Stroke. J Stroke Cerebrovasc Dis. 2019 May;28(5):1290-1294.
22: Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Tanaka M, Doi K, Yoshimura J, Morishita S, Goto J, Toda T, Tsuji S. Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. J Neurol Neurosurg Psychiatry. 2019 May;90(5):537-542.
23: Sato K, Nagashima Y, Mano T, Iwata A, Toda T. Quantifying normal and parkinsonian gait features from home movies: Practical application of a deep learning-based 2D pose estimator. PLoS One. 2019 Nov 14;14(11):e0223549.
24: Sato K, Iwata A, Kurihara M, Nagashima Y, Mano T, Toda T. Estimating acceleration time point of respiratory decline in ALS patients: A novel metric. J Neurol Sci. 2019 Aug 15;403:7-12.
25: Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, Tsuji S. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia. Intern Med. 2019 Oct 1;58(19):2865-2869.
26: Bannai T, Mano T, Chen X, Ohtomo G, Ohtomo R, Tsuchida T, Koshi-Mano K, Hashimoto T, Okazawa H, Iwatsubo T, Tsuji S, Toda T, Iwata A. Chronic cerebral hypoperfusion shifts the equilibrium of amyloid β oligomers to aggregation-prone species with higher molecular weight. Sci Rep. 2019 Feb 26;9(1):2827.
27: Sato K, Mano T, Ihara R, Suzuki K, Tomita N, Arai H, Ishii K, Senda M, Ito K, Ikeuchi T, Kuwano R, Matsuda H, Iwatsubo T, Toda T, Iwata A; Alzheimer’s Disease Neuroimaging Initiative, and Japanese Alzheimer’s Disease Neuroimaging Initiative. Lower Serum Calcium as a Potentially Associated Factor for Conversion of Mild Cognitive Impairment to Early Alzheimer's Disease in the Japanese Alzheimer's Disease Neuroimaging Initiative. J Alzheimers Dis. 2019;68(2):777-788.
28: Koh K, Ishiura H, Shimazaki H, Tsutsumiuchi M, Ichinose Y, Nan H, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. Mol Genet Genomic Med. 2020 Mar;8(3):e1108.
29: Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F. Ataxic phenotype with altered Ca_V3.1 channel property in a mouse model for spinocerebellar ataxia 42. Neurobiol Dis. 2019 Oct;130:104516.
30: Togawa J, Ohi T, Yuan JH, Takashima H, Furuya H, Takechi S, Fujitake J, Hayashi S, Ishiura H, Naruse H, Mitsui J, Tsuji S. Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy. Intern Med. 2019;58(13):1851-1858.
31: Sekine SI, Kaneko M, Tanaka M, Ninomiya Y, Kurita H, Inden M, Yamada M, Hayashi Y, Inuzuka T, Mitsui J, Ishiura H, Iwata A, Fujigasaki H, Tamaki H, Tamaki R, Kito S, Taguchi Y, Tanaka K, Atsuta N, Sobue G, Kondo T, Inoue H, Tsuji S, Hozumi I. Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells. Sci Rep. 2019 Apr 5;9(1):5698.
32: Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y. Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion. Parkinsonism Relat Disord. 2019 Apr;61:57-63.
33: Shirota Y, Ohminami S, Tsutsumi R, Terao Y, Ugawa Y, Tsuji S, Hanajima R. Increased facilitation of the primary motor cortex in de novo Parkinson's disease. Parkinsonism Relat Disord. 2019 Sep;66:125-129.
34: Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y. UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. J Hum Genet. 2019 Nov;64(11):1055-1065.
35: Tanaka N, Tsutsumi R, Shirota Y, Shimizu T, Ohminami S, Terao Y, Ugawa Y, Tsuji S, Hanajima R. Effects of L-DOPA on quadripulse magnetic stimulation-induced long-term potentiation in older adults. Neurobiol Aging. 2019 Dec;84:217-224.
36: Yasuda T, Matsukawa T, Mitsui J, Tsuji S. Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy. Neurogenetics. 2019 Mar;20(1):51-52.
37: Sasaki R, Ohta Y, Sato K, Tadokoro K, Takahashi Y, Shang J, Takemoto M, Hishikawa N, Yamashita T, Ishiura H, Tsuji S, Abe K. Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction. Intern Med. 2019 Nov 1;58(21):3163-3165.
38: Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consotium. Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia. J Hum Genet. 2019 Jan;64(1):61-63.
39: Miyabayashi T, Ochiai T, Suzuki N, Aoki M, Inui T, Okubo Y, Sato R, Togashi N, Takashima H, Ishiura H, Tsuji S, Koh K, Takiyama Y, Haginoya K. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy. J Hum Genet. 2019 Feb;64(2):171-176.
40. Matsukawa T, Yamamoto T, Honda A, Toya T, Ishiura H, Mitsui J, Tanaka M, Hao A, Shinohara A, Ogura M, Kataoka K, Seo S, Kumano K, Hosoi M, Narukawa K, Yasunaga M, Maki H, Ichikawa M, Nannya Y, Imai Y, Takahashi T, Takahashi Y, Nagasako Y, Yasaka K, Mano KK, Matsukawa MK, Miyagawa T, Hamada M, Sakuishi K, Hayashi T, Iwata A, Terao Y, Shimizu J, Goto J, Mori H, Kunimatsu A, Aoki S, Hayashi S, Nakamura F, Arai S, Momma K, Ogata K, Yoshida T, Abe O, Inazawa J, Toda T, Kurokawa M, Tsuji S. Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy. Brain Commun 2020; 2: fcz048.
41. Uchigami H, Sato K, Kubota A, Hayashi T, Shimizu J, Ikemura M, Toda T. Localized’ chronic invasive fungal rhinosinusitis without serological abnormalities. Neurology and Clinical Neuroscience. 2019 Mar.7(2):96-97.
42. Miyano R, Kurihara M, Orimo K, Mano T, Kaburaki T, Tanaka R, Nisijima H, Ikemura M, Takahashi M, Mori H, Muroh T, Hamada M, Hayashi T, Toda T. Severe visual impairment and subclinical encephalitis preceding clinical signs of chondritis in relapsing polychondritis. Neurology and Clinical Neuroscience 2019 Mar.7（2）:75-77.
43. Matsuda KM, Koguchi A, Toyama T, Sakuishi K, Kobayashi M, Miura S, Miyazaki M, Suga H, Asano Y, Toda T, Sato S. Concurrence of polyarteritis nodosa and multiple sclerosis. J Eur Acad Dermatol Venereol. 2020 Apr;34(4):e188-e191.
44. Aoh Y, Hsiao HJ, Lu MK, Macerollo A, Huang HC, Hamada M, Tsai CH, Chen JC. Event-Related Desynchronization/Synchronization in Spinocerebellar Ataxia Type 3. Front Neurol. 2019 Jul 31;10:822.

2018
1: Yamaguchi N, Mano T, Ohtomo R, Ishiura H, Almansour MA, Mori H, Kanda J, Shirota Y, Taira K, Morikawa T, Ikemura M, Yanagi Y, Murayama S, Shimizu J, Sakurai Y, Tsuji S, Iwata A. An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy. Intern Med. 2018 Dec1;57(23):3459-3462. 
2: Yoshikawa K, Kuwahara M, Saigoh K, Ishiura H, Yamagishi Y, Hamano Y, Samukawa M, Suzuki H, Hirano M, Mitsui Y, Tsuji S, Kusunoki S. The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. eNeurologicalSci. 2018 Nov 22;14:34-37. 
3: Uenaka T, Satake W, Cha PC, Hayakawa H, Baba K, Jiang S, Kobayashi K, Kanagawa M, Okada Y, Mochizuki H, Toda T. In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease. Hum Mol Genet. 2018 Nov 15;27(22):3974-3985. 
4: Tokushige SI, Matsuda SI, Oyama G, Shimo Y, Umemura A, Sasaki T, Inomata-Terada S, Yugeta A, Hamada M, Ugawa Y, Tsuji S, Hattori N, Terao Y. Effect of subthalamic nucleus deep brain stimulation on visual scanning. Clin Neurophysiol. 2018 Nov;129(11):2421-2432.
5: Nagase M, Yamamoto Y, Mitsui J, Tsuji S. Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress. J Clin Biochem Nutr. 2018 Nov;63(3):205-210. 
6: Tsuchida T, Mano T, Koshi-Mano K, Bannai T, Matsubara T, Yamashita S, Ushijima T, Nagata K, Murayama S, Toda T, Tsuji S, Iwata A. Methylation changes and aberrant expression of FGFR3 in Lewy body disease neurons. Brain Res. 2018 Oct 15;1697:59-66. 
7: Kurihara M, Sasaki T, Ishiura H, Tsuji S. HIV Dementia with a Decreased Cardiac (123)I-metaiodobenzylguanidine Uptake Masquerading as Dementia with Lewy Bodies. Intern Med. 2018 Oct 15;57(20):3007-3010. 
8: Kurihara M, Bannai T, Otsuka J, Kawabe Matsukawa M, Terao Y, Shimizu J, Tsuji S. Optic neuropathy and decorticate-like posture as presenting symptoms of Bickerstaff's brainstem encephalitis: A case report and literature review. Clin Neurol Neurosurg. 2018 Oct;173:159-162. 
9: Ishigaki K, Ihara C, Nakamura H, Mori-Yoshimura M, Maruo K, Taniguchi-Ikeda M, Kimura E, Murakami T, Sato T, Toda T, Kaiya H, Osawa M. National registry of patients with Fukuyama congenital muscular dystrophy in Japan. Neuromuscul Disord. 2018 Oct;28(10):885-893.
10: Nakamoto FK, Okamoto S, Mitsui J, Sone T, Ishikawa M, Yamamoto Y, Kanegae Y, Nakatake Y, Imaizumi K, Ishiura H, Tsuji S, Okano H. The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with
multiple-system atrophy. Sci Rep. 2018 Sep 21;8(1):14215. 
11: Hamaguchi T, Hirota Y, Takeuchi T, Nakagawa Y, Matsuoka A, Matsumoto M, Awano H, Iijima K, Cha PC, Satake W, Toda T, Ogawa W. Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor. J Diabetes Investig. 2018 Sep;9(5):1224-1227. 
12: Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with 
cerebellar ataxia and cognitive impairment. J Hum Genet. 2018 Sep;63(9):1009-1013. 
13: Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018 Aug 13;8(8). pii: E153. 
14: Imae R, Manya H, Tsumoto H, Osumi K, Tanaka T, Mizuno M, Kanagawa M, Kobayashi K, Toda T, Endo T. CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan. J Biol Chem. 2018 Aug 3;293(31):12186-12198. 
15: Cen Z, Jiang Z, Chen Y, Zheng X, Xie F, Yang X, Lu X, Ouyang Z, Wu H, Chen S, Yin H, Qiu X, Wang S, Ding M, Tang Y, Yu F, Li C, Wang T, Ishiura H, Tsuji S, Jiao C, Liu C, Xiao J, Luo W. Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1. Brain. 2018 Aug 1;141(8):2280-2288. 
16: Kodama S, Mano T, Kakumoto T, Ishiura H, Hagiwara A, Kamiya K, Hayashi T, Tsuji S. Ketotic hyperglycemia-related seizure with reversible white matter lesion: Metabolic implication of its reversibility based on magnetic resonance spectroscopy study. J Neurol Sci. 2018 Jul 15;390:20-21. 
17: Tokushige SI, Terao Y, Matsuda S, Furubayashi T, Sasaki T, Inomata-Terada S, Yugeta A, Hamada M, Tsuji S, Ugawa Y. Does the Clock Tick Slower or Faster in Parkinson's Disease? - Insights Gained From the Synchronized Tapping Task. Front Psychol. 2018 Jul 11;9:1178. 
18: Sudo A, Chihara N, Takenaka Y, Nakamura T, Ueda T, Sekiguchi K, Toda T. Paraneoplastic NMOSD associated with EG junction adenocarcinoma expressing unprotected AQP4. Neurol Neuroimmunol Neuroinflamm. 2018 Jul 9;5(5):e482. 
19: Horikawa Y, Hosomichi K, Enya M, Ishiura H, Suzuki Y, Tsuji S, Sugano S, Inoue I, Takeda J. No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY. J Hum Genet. 2018 Jul;63(7):821-829. 
20: Horita S, Simsek E, Simsek T, Yildirim N, Ishiura H, Nakamura M, Satoh N, Suzuki A, Tsukada H, Mizuno T, Seki G, Tsuji S, Nangaku M. SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report. BMC Med Genet. 2018 Jun 18;19(1):103. 
21: Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. 
22: Misawa S, Kuwabara S, Sato Y, Yamaguchi N, Nagashima K, Katayama K, Sekiguchi Y, Iwai Y, Amino H, Suichi T, Yokota T, Nishida Y, Kanouchi T, Kohara N, Kawamoto M, Ishii J, Kuwahara M, Suzuki H, Hirata K, Kokubun N, Masuda R, Kaneko J, Yabe I, Sasaki H, Kaida KI, Takazaki H, Suzuki N, Suzuki S, Nodera H, Matsui N, Tsuji S, Koike H, Yamasaki R, Kusunoki S; Japanese Eculizumab Trial for GBS (JET-GBS) Study Group. Safety and efficacy of eculizumab in Guillain-Barré syndrome: a multicentre, double-blind, randomised phase 2 trial. Lancet Neurol. 2018 Jun;17(6):519-529. 
23: Tsuchiya M, Hara Y, Okuda M, Itoh K, Nishioka R, Shiomi A, Nagao K, Mori M, Mori Y, Ikenouchi J, Suzuki R, Tanaka M, Ohwada T, Aoki J, Kanagawa M, Toda T, Nagata Y, Matsuda R, Takayama Y, Tominaga M, Umeda M. Cell surface flip-flop of phosphatidylserine is critical for PIEZO1-mediated myotube formation. Nat Commun. 2018 May 24;9(1):2049. 
24: Kanagawa M, Toda T. Ribitol-phosphate-a newly identified posttranslational glycosylation unit in mammals: structure, modification enzymes and relationship to human diseases. J Biochem. 2018 May 1;163(5):359-369. 
25: Sudo A, Kanagawa M, Kondo M, Ito C, Kobayashi K, Endo M, Minami Y, Aiba A, Toda T. Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. Hum Mol Genet. 2018 Apr 1;27(7):1174-1185. 
26: Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet. 2018 Apr;50(4):581-590. 
27: Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. 
28: Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, Kanagawa M, Endo T, Toda T. Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. Biochem Biophys Res Commun. 2018 Mar
18;497(4):1025-1030. 
29: Endo H, Sekiguchi K, Shimada H, Ueda T, Kowa H, Kanda F, Toda T. Low signal intensity in motor cortex on susceptibility-weighted MR imaging is correlated with clinical signs of amyotrophic lateral sclerosis: a pilot study. J Neurol. 2018 Mar;265(3):552-561. 
30: Tanabe H, Higuchi Y, Yuan JH, Hashiguchi A, Yoshimura A, Ishihara S, Nozuma S, Okamoto Y, Matsuura E, Ishiura H, Mitsui J, Takashima R, Kokubun N, Maeda K, Asano Y, Sunami Y, Kono Y, Ishigaki Y, Yanamoto S, Fukae J, Kida H, Morita M, Tsuji S, Takashima H. Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan. J Peripher Nerv Syst. 2018 Mar;23(1):40-48. 
31: Komaki R, Ueda T, Tsuji Y, Miyawaki T, Kusuhara S, Hara S, Toda T. [Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report]. Rinsho Shinkeigaku. 2018 Feb 28;58(2):111-117. 
32: Udagawa T, Harita Y, Miura K, Mitsui J, Ode KL, Morishita S, Urae S, Kanda S, Kajiho Y, Tsurumi H, Ueda HR, Tsuji S, Saito A, Oka A. Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells. Sci Rep. 2018 Feb 5;8(1):2351. 
33: Sasaki T, Shirota Y, Kodama S, Togashi N, Sugiyama Y, Tokushige SI, Inomata-Terada S, Terao Y, Ugawa Y, Toda T, Hamada M. Modulation of motor learning by a paired associative stimulation protocol inducing LTD-like effects. Brain Stimul. 2018 Nov - Dec;11(6):1314-1321. 
34: Nishioka Y, Shindoh J, Inagaki Y, Gonoi W, Mitsui J, Abe H, Yoshioka R, Yoshida S, Fukayama M, Tsuji S, Hashimoto M, Hasegawa K, Kokudo N. Host MICA Polymorphism as a Potential Predictive Marker in Response to Chemotherapy for Colorectal Liver Metastases. Dig Dis. 2018;36(6):437-445. 
35: Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T,Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J,Tsuji S. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellum. 2018 Apr;17(2):237-242. 
36: Uchio N, Taira K, Ikenaga C, Unuma A,  Kadoya M, Kubota A, Toda T, Shimizu J. Granulomatous myositis induced by anti–PD-1 monoclonal antibodies Neurol Neuroimmunol Neuroinflamm April 2018 5:e464
37: Uchio N, Taira K, Ikenaga C, Kadoya M, Unuma A, Yoshida K, Nakatani-Enomoto S, Hatanaka Y, Sakurai Y, Shiio Y, Kaida K, Kubota A, Toda T, Shimizu J. Inflammatory myopathy with myasthenia gravis: Thymoma association and polymyositis pathology. Neurol Neuroimmunol Neuroinflamm. 2018 Dec 24;6(2):e535.
38: Iwata A, Iwatsubo T, Ihara R, Suzuki K,  Matsuyama Y, Tomita N, Arai H, Ishii K, Senda M, Ito K, Ikeuchi T, Kuwano R, Matsuda H, for the Alzheimer’s Disease Neuroimaging Initiative, and the Japanese ADNI. Effects of sex, educational background, and CKD grading on cognitive and functional decline in Japanese ADNI study. Alzheimers Dement (NY) TRCI, 4, 765-774, 2018.
39: Ohtomo R, Banna T, Ohtomo G, Shindo A, Tomimoto H, Tsuj S, Iwata A. Therapeutic effect of cilostazol towards chronic cerebral hypoperfusion in mice: Implication from gene expression analysis. Neurosci Lett, 662, 247-252, 2018.
40: Iwatsubo T, Iwata A, Suzuki K, Ihara R, Arai H, Ishii K, Senda M, Ito K, Ikeuchi T, Kuwano R, Matsuda H; Japanese Alzheimer’s disease neuroimaging initiative, Chung-Kai Sun, Laurel Beckett, Paul Aisen, Michael Donohue; Alzheimer’s disease neuroimaging initiative. Japanese and north American Alzheimer’s disease neuroimaging initiative studies: Harmonization for international trials. Alzheimers Dement, 14(8), 1077-1087, 2018
41: Matsumoto L, Suzuki K, Mizuno Y, Ohike Y, Ozeki A, Ono S, Takanashi M, Sawaki D,  Suzuki T, Yamazaki T, Tsuji S, Iwata A. Association of subclinical carotid atherosclerosis with immediate memory and other cognitive functions. Geriatr Gerontol Int, 18(1), 65-71, 2018
42: Nagata K, Mano T, Murayama S, Saido TC, Iwata A. DNA methylation level of the neprilysin promoter in Alzheimer’s disease brains. Neurosci Lett, 670, 8-13, 2018
43: Ihara R, Iwata A, Suzuki K, Ikeuchi T, Kuwano R, Iwatsubo T, the Japanese Alzheimer’s Disease Neuroimaging Initiative. Clinical and Cognitive Characteristics of Preclinical Alzheimer’s Disease in the Japanese Alzheimer’s Disease Neuroimaging Initiative Cohort. Alzheimers Dement (NY) TRCI, 4, 645-651, 2018
44: Iwata A, Iwatsubo T, Ihara R, Suzuki K, Matsuyama Y, Tomita N, Arai H, Ishii K, Senda M, Ito K, Ikeuchi K, Kuwano R, Matsuda H, for the Alzheimer’s Disease Neuroimaging Initiative, and the Japanese Alzheimer’s Disease Neuroimaging Initiative. Effects of sex, educational background, and CKD grading on cognitive and functional decline in Japanese ADNI study. Alzheimers Dement (NY) TRCI, 4, 765-774, 2018

2017
1. Kanagawa M, Toda T. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy. J Neuromuscul Dis. 2017;4(4):259-267.
2. Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, Kanagawa M, Endo T, Toda T. Cell endogenous activities of fukutin and FKRP coexist with TMEM5. Biochem Biophys Res Commun. 2018 Mar 18;497(4):1025-1030.
3. Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. J Hum Genet 2017 Nov;62(11):945-948.
4. Morita K, Nakamura F, Sakuishi K, Yamamoto T, Shimizu J, Tsuji S, Kurokawa M. Successful management of chronic myeloid leukemia with a complication of anti-SRP antibody-associated myopathy. Leuk Lymphoma. 2017 May; 58(5): 1242-1245.
5. Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.  J Hum Genet. 2017 Apr;62(4):473-480.
6. Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 May;32(5):801-809. 
7. Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. J Neurol Sci. 2017 Jan 15;372:6-10.
8. Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige SI, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y, Tsuji S. Three-Year Follow-Up of High-Dose Ubiquinol Supplemen¬ta¬tion in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations. Cerebellum. 2017 Jun;16(3):664-672.
9. Amiya E, Morita H, Ishiura H, Tsuji S, Komuro I. Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub. Int J Cardiol. 2017 Apr 15;233:102.
10. Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K. Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. J Neurol Sci. 2017 Apr 15;375:424-429..
11. Kodama S, Mano T, Masuzawa A, Hirata Y, Nagasako Y, Koshi Mano K, Hamada M, Terao Y, Hayashi T, Ono M, Tsuji S. Tacrolimus-Induced Reversible Cerebral Vasoconstriction Syndrome with Delayed Multi-Segmental Vasoconstriction. J Stroke Cerebrovasc Dis. 2017 May;26(5):e75-e77.
12. Kimura M, Yabe I, Hama Y, Eguchi K, Ura S, Tsuzaka K, Tsuji S, Sasaki H.  SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia. J Hum Genet. 2017 Sep;62(9):857-859.
13. Eriguchi Y, Kuwabara H, Inai A, Kawakubo Y, Nishimura F, Kakiuchi C, Tochigi M, Ohashi J, Aoki N, Kato K, Ishiura H, Mitsui J, Tsuji S, Doi K, Yoshimura J, Morishita S, Shimada T, Furukawa M, Umekage T, Sasaki T, Kasai K, Kano Y. Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing. Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):712-723. 
14. Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.  Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.  J Peripher Nerv Syst. 2017 Sep;22(3):191-199. 
15. Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T.  Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. Diabetes. 2017 Oct;66(10):2713-2723.
16. Ikenaga C, Kubota A, Kadoya M, Taira K, Uchio N, Hida A, Maeda MH, Nagashima Y, Ishiura H, Kaida K, Goto J, Tsuji S, Shimizu J.  Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology.  Neurology. 2017 Sep 5;89(10):1060-1068.
17. Naito T, Nagashima Y, Taira K, Uchio N, Tsuji S, Shimizu J.  Identification and segmentation of myelinated nerve fibers in a cross-sectional optical microscopic image using a deep learning model. J Neurosci Methods. 2017 Nov 1;291:141-149.
18. Mano T, Nagata K, Nonaka T, Tarutani A, Imamura T, Hashimoto T, Bannai T, Koshi-Mano K, Tsuchida T, Ohtomo R, Takahashi-Fujigasaki J, Yamashita S, Ohyagi Y, Yamasaki R, Tsuji S, Tamaoka A, Ikeuchi T, Saido TC, Iwatsubo T, Ushijima T, Murayama S, Hasegawa M, Iwata A.  Proc Natl Acad Sci U S A. 2017 Nov 7;114(45):E9645-E9654. 
19. Terao Y, Fukuda H, Tokushige SI, Inomata-Terada S, Yugeta A, Hamada M, Ugawa Y. Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. Clin Neurophysiol. 2017 Jan;128(1):31-43. 
20. Hordacre B, Goldsworthy MR, Vallence AM, Darvishi S, Moezzi B, Hamada M, Rothwell JC, Ridding MC. Variability in neural excitability and plasticity induction in the human cortex: A brain stimulation study. Brain Stimul. 2017 May - Jun;10(3):588-595.
21. Terao Y, Fukuda H, Tokushige SI, Inomata-Terada S, Hamada M, Ugawa Y. Saccades abnormalities in posterior cortical atrophy - A case report. Clin Neurophysiol. 2017 Feb;128(2):349-350.
22. Hanajima R, Tanaka N, Tsutsumi R, Enomoto H, Abe M, Nakamura K, Kobayashi S, Hamada M, Shimizu T, Terao Y, Ugawa Y. The effect of age on the homotopic motor cortical long-term potentiation-like effect induced by quadripulse stimulation. Exp Brain Res. 2017 Jul;235(7):2103-2108. 
23. Huang YZ, Lu MK, Antal A, Classen J, Nitsche M, Ziemann U, Ridding M, Hamada M, Ugawa Y, Jaberzadeh S, Suppa A, Paulus W, Rothwell J. Plasticity induced by non-invasive transcranial brain stimulation: A position paper. Clin Neurophysiol. 2017 Nov;128(11):2318-2329. 
24. Kim K, Shimizu J, Isu T, Inoue K, Chiba Y, Iwamoto N, Morimoto D, Isobe M, Morita A. Low back pain due to superior cluneal nerve entrapment: A clinicopathologic study. Muscle Nerve. 2017 Nov 3. doi: 10.1002/mus.26007. [Epub ahead of print]
25. Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI, Sugie K, Tate G, Shimizu J, Goto J, Tsuji S, Shiio Y. Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH. Ann Clin Transl Neurol. 2017 May 22;4(6):415-421. 

2016
​1. Nishikawa A, Mori-Yoshimura M, Segawa K, Hayashi YK, Takahashi T, Saito Y, Nonaka I, Krahn M, Levy N, Shimizu J, Mitsui J, Kimura E, Goto J, Yonemoto N, Aoki M, Nishino I, Oya Y, Murata M. Respiratory and cardiac function in japanese patients with dysferlinopathy. Muscle Nerve. 2016 Mar;53(3):394-401.
2. Nakamura R, Sone J, Atsuta N, Tohnai G, Watanabe H, Yokoi D, Nakatochi M, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Tsuji S, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort. Neurobiol Aging. 2016 Mar;39:219.e1-8.
3. Watanabe H, Atsuta N, Hirakawa A, Nakamura R, Nakatochi M, Ishigaki S, Iida A, Ikegawa S, Kubo M, Yokoi D, Watanabe H, Ito M, Katsuno M, Izumi Y, Morita M, Kanai K, Taniguchi A, Aiba I, Abe K, Mizoguchi K, Oda M, Kano O, Okamoto K, Kuwabara S, Hasegawa K, Imai T, Kawata A, Aoki M, Tsuji S, Nakashima K, Kaji R, Sobue G. A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):851-8.
4. Qu W, Tsukahara T, Nakamura R, Yurino H, Hashimoto S, Tsuji S, Takeda H, Morishita S. Assessing Cell-to-Cell DNA Methylation Variability on Individual Long Reads. Sci Rep. 2016 Feb 18;6:21317.
5. Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F. Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet. 2016 Jun;61(6):547-53.
6. Ichinose Y, Koh K, Fukumoto M, Yamashiro N, Kobayashi F, Miwa M, Nagasaka T, Shindo K, Ishiura H, Tsuji S, Takiyama DY. Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. Clin Neurol Neurosurg. 2016 May;144:36-8.
7. Higuchi Y, Hashiguchi A, Yuan J, Yoshimura A, Mitsui J, Ishiura H, Tanaka M, Ishihara S, Tanabe H, Nozuma S, Okamoto Y, Matsuura E, Ohkubo R, Inamizu S, Shiraishi W, Yamasaki R, Ohyagi Y, Kira J, Oya Y, Yabe H, Nishikawa N, Tobisawa S, Matsuda N, Masuda M, Kugimoto C, Fukushima K, Yano S, Yoshimura J, Doi K, Nakagawa M, Morishita S, Tsuji S, Takashima H. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol. 2016 Apr;79(4):659-72.
8. Mano KK, Matsukawa T, Mitsui J, Ishiura H, Tokushige S, Takahashi Y, Sato NS, Nakamoto FK, Ichikawa Y, Nagashima Y, Terao Y, Shimizu J, Hamada M, Uesaka Y, Oyama G, Ogawa G, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum. Neurol Genet. 2016 Jan 7;2(1):e48.
9. Okuma H, Saito F, Mitsui J, Hara Y, Hatanaka Y, Ikeda M, Shimizu T, Matsumura K, Shimizu J, Tsuji S, Sonoo M. Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. Neurol Genet. 2016 Feb 1;2(1):e50.
10. Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun. 2016 Apr 15;7:11253.
11. Suzuki Y, Korlach J, Turner SW, Tsukahara T, Taniguchi J, Qu W, Ichikawa K, Yoshimura J, Yurino H, Takahashi Y, Mitsui J, Ishiura H, Tsuji S, Takeda H, Morishita S. AgIn: measuring the landscape of CpG methylation of individual repetitive elements. Bioinformatics. 2016 Oct 1;32(19):2911-9.
12. Mitsui J, Matsukawa T, Yasuda T, Ishiura H, Tsuji S. Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy. JAMA Neurol. 2016 Aug 1;73(8):977-80.
13. Amiya E, Morita H, Hatano M, Nitta D, Hosoya Y, Maki H, Motozawa Y, Sato N, Ishiura H, Numakura S, Shintani Y, Kinugawa K, Takeda N, Shimizu J, Tsuji S, Komuro I. Fukutin gene mutations that cause left ventricular noncompaction. Int J Cardiol. 2016 Nov 1;222:727-9.
14. Fujimori K, Tezuka T, Ishiura H, Mitsui J, Doi K, Yoshimura J, Tada H, Matsumoto T, Isoda M, Hashimoto R, Hattori N, Takahashi T, Morishita S, Tsuji S, Akamatsu W, Okano H. Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines. Mol Brain. 2016 Oct 3;9(1):88.
15. Mitsui J, Tsuji S. Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply. JAMA Neurol. 2016 Dec 1;73(12):1499-1500.
16. Yamaguchi N, Misawa S, Sato Y, Nagashima K, Katayama K, Sekiguchi Y, Iwai Y, Amino H, Suichi T, Yokota T, Nishida Y, Kohara N, Hirata K, Nishiyama K, Yabe I, Kaida KI, Suzuki N, Nodera H, Tsuji S, Koike H, Kira JI, Hanaoka H, Kusunoki S, Kuwabara S; JET-GBS Group. A Prospective, Multicenter, Randomized Phase II Study to Evaluate the Efficacy and Safety of Eculizumab in Patients with Guillain-Barré Syndrome (GBS): Protocol of Japanese Eculizumab Trial for GBS (JET-GBS). JMIR Res Protoc. 2016 Nov 7;5(4):e210.
17. Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. J Hum Genet. 2017 Apr;62(4):473-480.
18. Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y. Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2017 May;32(5):801-809.
19. Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J. Slowly pro-gressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing. J Neurol Sci. 2017 Jan 15;372:6-10.
20. Yoshida, M., Hayashi, T., Fujii, K., Kawai, K., Tsuji, S., Iwata, A. Recovered recall memory after decompression of the fornix by surgical removal of pineal tumor. Neurology, 86(8):790-791, 2016.
21. Hida A, Yamashita T, Hosono Y, Inoue M, Kaida K, Kadoya M, Miwa Y, Yajima N, Maezawa R, Arai S, Kurasawa K, Ito K, Shimada H, Iwanami T, Sonoo M, Hatanaka Y, Murayama S, Uchibori A, Chiba A, Aizawa H, Momoo T, Nakae Y, Sakurai Y, Shiio Y, Hashida H, Yoshizawa T, Sakiyama Y, Oda A, Inoue K, Takeuchi S, Iwata NK, Date H, Masuda N, Mikata T, Motoyoshi Y, Uesaka Y, Maeda MH, Nakashima R, Tsuji S, Kwak S, Mimori T, Shimizu J. Anti-TIF1-gamma antibody and cancer-associated myositis: A clinicohisto-pathologic study. Neurology 87: 299-308, 2016
22. Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M. Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. J Clin Neuromuscul Dis 17: 197-206, 2016
23. Kadoya M, Hida A, Hashimoto Maeda M, Taira K, Ikenaga C, Uchio N, Kubota A, Kaida K, Miwa Y, Kurasawa K, Shimada H, Sonoo M, Chiba A, Shiio Y, Uesaka Y, Sakurai Y, Izumi T, Inoue M, Kwak S, Tsuji S, Shimizu J. Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy. Neurol Neuroimmunol Neuro-inflamm 3: e290, 2016
24. Kadoya M, Kaida K, Koike H, Takazaki H, Ogata H, Moriguchi K, Shimizu J, Nagata E, Takizawa S, Chiba A, Yamasaki R, Kira JI, Sobue G, Ikewaki K. IgG4 anti-neurofascin155 antibodies in chronic inflammatory demyelinating poly¬radiculo-neuropathy: Clinical significance and diagnostic utility of a conventional assay. J Neuroimmunol 301: 16-22, 2016
25. Okuma H, Saito F, Mitsui J, Hara Y, Hatanaka Y, Ikeda M, Shimizu T, Matsumura K, Shimizu J, Tsuji S, Sonoo M. Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1. Neurol Genet 2: e50, 2016
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