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 Neurol   2023年9月査読

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 Syst   2023年8月

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 Neurol.   2023年8月

Ando M, Higuchi Y, Yuan JH, Yoshimura A, Dozono M, Hobara T, Kojima F, Noguchi Y, Takeuchi M, Takei J, Hiramatsu Y, Nozuma S, Nakamura T, Sakiyama Y, Hashiguchi A, Matsuura E, Okamoto Y, Sone J, Takashima H. .  Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan .  J Neurol Neurosurg Psychiatry   2023年3月査読

Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder. Front Neurol .  Front Neurol13 ( 14 ) 1137958 - 1137958   2023年2月査読

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan .  Front Neurol26 ( 14 ) 1078195 - 1078195   2023年1月査読

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. .  Intern Med62 ( 15 ) 2253 - 2259   2023年査読

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]. .  Rinsho Shinkeigaku.   2023年

井元 万紀子, 中村 航大, 井上 貴美子, 安藤 匡宏, 樋口 雄二郎, 髙嶋 博, 奥田 志保 .  中高年以降に自律神経障害を併発し，GAN新規変異を認めた巨大軸索ニューロパチーの1例 .  臨床神経学63 ( 9 ) 566 - 571   2023年

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 Neurol   2022年

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   2022年査読

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   2022年査読

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   2022年査読

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   2022年査読

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   2022年査読

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   2022年査読

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   2022年査読

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 Genet67 ( 7 ) 399 - 403   2022年査読

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   2022年査読

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   2022年査読

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   2021年査読

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   2021年査読

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 .    60 ( 8 ) 543 - 548   2020年査読

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   2019年査読

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   2018年査読

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   2018年査読

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   2018年査読

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   2018年査読

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   2017年査読

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   2017年査読

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   2017年査読

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   2017年査読

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   2017年査読

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   2014年査読