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 Neurol9 ( 5 ) 747 - 755   2022Reviewed

Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H .  Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease .  Ann Clin Transl Neurol9 ( 7 ) 902 - 911   2022Reviewed

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 .  Biomedicines10 ( 7 ) 1546   2022Reviewed

Ando M, Higuchi Y, Yuan JH, Yoshimura A, Higashi S, Takeuchi M, Hobara T, Kojima F, Noguchi Y, Takei J, Hiramatsu Y, Nozuma S, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Nagai M, Takashima H .  Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan .  Front Neurol10 ( 13 ) 952493   2022Reviewed

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 Syst22 ( 3 ) 191 - 199   2017Reviewed

Ando M, Okamoto Y, Yoshimura A, Yuan JH, Hiramatsu Y, Higuchi Y, Hashiguchi A, Mitsui J, Ishiura H, Fukumura S, Matsushima M, Ochi N, Tsugawa J, Morishita S, Tsuji S, Takashima H .  Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan .  Eur J Neurol24 ( 10 ) 1274 - 1282   2017Reviewed

Yuan JH, Higuchi Y, Ando M, Hiramatsu Y, Yoshimura A, Hobara T, Kojima F, Nakamura T, Sakiyama Y, Nozuma S, Ohyama S, Mitsui J, Tsuji S, Takashima H .  Frameshift and Copy Number Variants in SACS-Related Neuropathy. .  Neurology. Genetics11 ( 6 ) e200318   2025.12

Nagatomo R, Hiramatsu Y, Sakiyama Y, Miyahara H, Nasu T, Yamazaki I, Yoshimura A, Ando M, Nozuma S, Higuchi Y, Akagi A, Iwasaki Y, Yuan JH, Okamoto Y, Takashima H .  Systemic mitochondrial involvement in mitochondrial myopathy with episodic hyper-creatine kinase-emia: insights from an autopsy case. .  Journal of neurology272 ( 9 ) 576   2025.8

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 Neurol272 ( 8 ) 514   2025.7Reviewed

Watanabe R, Papatriantafyllou JD, Maeda K, Aguirre GK, Ando M, Benoit B, Grossman M, Irwin DJ, Kim B, Massimo L, McMillan CT, Papageorgiou SG, Phillips JS, Shiraishi T, Sugihara Y, Suh E, Takashima H, Toro C, Van Deerlin VM, Nasrallah IM, Lee EB .  Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G .  Alzheimers Dement21 ( 7 ) e70427   2025.7Reviewed International coauthorship

Yano C, Matsuura E, Nakamura T, Sonoda A, Shigehisa A, Ando M, Nozuma S, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Takashima H .  Visual evoked potential in myelin oligodendrocyte glycoprotein antibody-associated disease .  Mult Scler Relat Disord98   106408   2025.6Reviewed

Peymani F, Ebihara T, Smirnov D, Kopajtich R, Ando M, Bertini E, Carrozzo R, Diodato D, Distelmaier F, Fang F, Ghezzi D, Hempel M, Iwanicka-Pronicka K, Klopstock T, Stenton SL, Lamperti C, Liu Z, Murtazina A, Okamoto Y, Okazaki Y, Piekutowska-Abramczuk D, Rötig A, Ryzhkova O, Schlein C, Shagina O, Takashima H, Tsygankova PG, Zech M, Meitinger T, Shimura M, Murayama K, Prokisch H .  Pleiotropic effects of MORC2 derive from its epigenetic signature .  Brain   awaf159   2025.4Reviewed International coauthorship

Sakiyama Y, Yuan JH, Yoshimura A, Takeuchi M, Maki Y, Mori T, Takei J, Ando M, Hiramatsu Y, Nozuma S, Higuchi Y, Yonezawa H, Kirishima M, Suzuki M, Kano T, Tarisawa M, Hashiguchi S, Kunii M, Sato S, Takahashi-Iwata I, Hashiguchi A, Matsuura E, Izumo S, Tanimoto A, Takashima H .  Brain biopsy and metagenomic sequencing enhance aetiological diagnosis of encephalitis .  Brain Commun7 ( 3 ) fcaf165   2025.4Reviewed

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.12 ( 1 ) 136   2024.8Reviewed

Kojima F, Okamoto Y, Ando M, Higuchi Y, Hobara T, Yuan J, Yoshimura A, Hashiguchi A, Matsuura E, Takashima H. .  A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. .  Neurogenetics25 ( 2 ) 149 - 156   2024.4Reviewed

Nozuma S., Yuji-Takeuchi M., Nakamura T., Saigo R., Masuda M., Ando M., Sakiyama Y., Miyata R., Tabata K., Matsuura E., Takashima H. .  A case of severe paraneoplastic glutamic acid decarboxylase antibody-spectrum disorder with improvement through prior immunotherapy before surgical intervention .  Clinical and Experimental Neuroimmunology14 ( 4 ) 202 - 206   2023.11

Hirano M, Kuwahara M, Yamagishi Y, Samukawa M, Fujii K, Yamashita S, Ando M, Oka N, Nagano M, Matsui T, Takeuchi T, Saigoh K, Kusunoki S, Takashima H, Nagai Y. .  CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy .  Sci Rep13 ( 1 ) 17801   2023.10Reviewed

Higuchi Y, Ando M, Kojima F, Yuan J, Hashiguchi A, Yoshimura A, Hiramatsu Y, Nozuma S, Fukumura S, Yahikozawa H, Abe E, Toyoshima I, Sugawara M, Okamoto Y, Matsuura E, Takashima H. .  Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum .  J Neurol271 ( 1 ) 419 - 430   2023.9Reviewed

Takei J, Higuchi Y, Ando M, Yoshimura A, Yuan JH, Fujisaki N, Tokashiki T, Kanzato N, Jonosono M, Sueyoshi T, Kanda N, Matsuoka H, Okubo R, Suehara M, Matsuura E, Takashima H. .  Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation. .  Front Neurol23 ( 14 ) 1241678 - 1241678   2023.8Reviewed

Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H. .  Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders. .  J Peripher Nerv Syst28 ( 4 ) 597 - 607   2023.8Reviewed

Nagata R, Matsuura E, Nozuma S, Dozono M, Noguchi Y, Ando M, Hiramatsu Y, Kodama D, Tanaka M, Kubota R, Yamakuchi M, Higuchi Y, Sakiyama Y, Arata H, Higashi K, Hashiguchi T, Nakane S, Takashima H. .  Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder. Front Neurol .  Front Neurol13 ( 14 ) 1137958 - 1137958   2023.2Reviewed

Yuan JH, Higuchi Y, Hashiguchi A, Ando M, Yoshimura A, Nakamura T, Hiramatsu Y, Sakiyama Y, Takashima H .  Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan .  Front Neurol26 ( 14 ) 1078195 - 1078195   2023.1Reviewed

Takahashi N, Mishima T, Fujioka S, Izumi K, Ando M, Higuchi Y, Takashima H, Tsuboi Y. .  Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. .  Intern Med62 ( 15 ) 2253 - 2259   2023Reviewed

M.D. Imoto Makiko, M.D. Nakamura Kota, M.D. Inoue Kimiko, M.D. Ph.D. Ando Masahiro, M.D. Ph.D. Higuchi Yujiro, M.D. Ph.D. Takashima Hiroshi, M.D. Ph.D. Okuda Shiho .  Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation .  Rinsho Shinkeigaku63 ( 9 ) 566 - 571   2023Reviewed

Imoto M, Nakamura K, Inoue K, Ando M, Higuchi Y, Takashima H, Okuda S. .  [Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation]. .      2023

Ando M, Takashima H .  [Cerebellar Ataxia in RFC1 Spectrum Disorders]. .  Brain and nerve = Shinkei kenkyu no shinpo74 ( 11 ) 1273 - 1279   2022.11

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.387 ( 12 ) 1099 - 1110   2022.9Reviewed International coauthorship

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 Genet67 ( 6 ) 353 - 362   2022Reviewed

Ando M, Higuchi Y, Takeuchi M, Hashiguchi A, Takashima H .  The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan .  Neurol Sci43 ( 3 ) 2133 - 2136   2022Reviewed

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 Neurol269 ( 8 ) 4129 - 4140   2022Reviewed

Nozuma S, Matsuura E, Tashiro Y, Nagata R, Ando M, Hiramatsu Y, Higuchi Y, Sakiyama Y, Hashiguchi A, Michizono K, Higashi K, Matsuzaki T, Kodama D, Tanaka M, Yamano Y, Moritoyo T, Kubota R, Takashima H. .  Efficacy of L-Arginine treatment in patients with HTLV-1- associated neurological disease .  Ann Clin Transl Neurol10 ( 2 ) 237 - 245   2022Reviewed

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 Neurol17 ( 13 ) 986504   2022Reviewed

Yuan JH, Higuchi Y, Hashiguchi A, Ando M, Yoshimura A, Nakamura T, Sakiyama Y, Takashima H. .  Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study .  J Neurol269 ( 12 ) 6406 - 6415   2022Reviewed

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 Gene99 ( 3 ) 359 - 375   2021Reviewed

Higuchi Y, Ando M, Yoshimura A, Hakotani S, Koba Y, Sakiyama Y, Hiramatsu Y, Tashiro Y, Maki Y, Hashiguchi A, Yuan J, Okamoto Y, Matsuura E, Takashima .  Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan .  Cerebellum21 ( 5 ) 851 - 860   2021Reviewed

丸田恭子 安藤匡宏, 大友孝信, 高嶋 博 .  AP5Z1遺伝子に新規変異を認めたspastic paraplegia48の1例 .  Rinsho shinkeigaku = Clinical neurology60 ( 8 ) 543 - 548   2020Reviewed

Yoshimura A, Yuan JH, Hashiguchi A, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Nakagawa M, Takashima H .  Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan .  J Neurol Neurosurg Psychiatry90 ( 2 ) 195 - 202   2019Reviewed

Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H .  Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2 .  J Hum Genet63 ( 31 ) 281 - 287   2018Reviewed

Sakiyama Y, Matsuura E, Maki Y, Yoshimura A, Ando M, Nomura M, Shinohara K, Saigo R, Nakamura T, Hashiguchi A, Takashima H .  Peripheral neuropathy in a case with CADASIL: a case report .  BMC Neurol18 ( 1 ) 134   2018Reviewed

Yuan JH, Sakiyama Y, Hashiguchi A, Ando M, Okamoto Y, Yoshimura A, Higuchi Y, Takashima H .  Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1 .  Eur J Neurol25 ( 12 ) 1454 - 1461   2018Reviewed

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 .  Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy .  Brain141 ( 6 ) 1622 - 1636   2018Reviewed

Yuan JH, Hashiguchi A, Yoshimura A, Sakai N, Takahashi MP, Ueda T, Taniguchi A, Okamoto S, Kanazawa N, Yamamoto Y, Saigoh K, Kusunoki S, Ando M, Hiramatsu Y, Okamoto Y, Takashima H .  WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study. .  Clin Genet92 ( 6 ) 659 - 663   2017Reviewed

Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H .  Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants .  Clin Genet92 ( 3 ) 274 - 280   2017Reviewed

Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H. .  Clinical diversity caused by novel IGHMBP2 variants. .  J Hum Genet62 ( 6 ) 599 - 604   2017Reviewed

Yuan J, Ando M, Higuchi I, Sakiyama Y, Matsuura E, Michizono K, Watanabe O, Nagano S, Inamori Y, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H .  Partial deficiency of emerin caused by a splice site mutation in EMD .  Intern Med53 ( 14 ) 1563 - 1568   2014Reviewed