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   2023.3Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in JapanReviewed

Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder. Front Neurol .  Front Neurol13 ( 14 ) 1137958 - 1137958   2023.2Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder. Front NeurolReviewed

Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan .  Front Neurol26 ( 14 ) 1078195 - 1078195   2023.1Gene panel analysis of 119 index patients with suspected periodic paralysis in JapanReviewed

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

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

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[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].

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   2022Efficacy of L-Arginine treatment in patients with HTLV-1- associated neurological disease

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   2022Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathyReviewed

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   2022Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in JapanReviewed

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   2022Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series studyReviewed

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   2022Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis PossibleReviewed

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   2022Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth diseaseReviewed

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   2022Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in JapanReviewed

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   2022Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genesReviewed

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   2022An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese familiesReviewed

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   2022Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatmentsReviewed

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   2022The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in JapanReviewed

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   2021Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in JapanReviewed

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   2021Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in JapanReviewed

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   2020AP5Z1遺伝子に新規変異を認めたspastic paraplegia48の1例Reviewed

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   2019Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in JapanReviewed

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   2018Peripheral neuropathy in a case with CADASIL: a case reportReviewed

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   2018Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1Reviewed

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   2018Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyReviewed

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   2018Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2Reviewed

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   2017Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variantsReviewed

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   2017Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in JapanReviewed

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   2017Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case studyReviewed

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   2017WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.Reviewed

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   2017Clinical diversity caused by novel IGHMBP2 variants.Reviewed

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   2014Partial deficiency of emerin caused by a splice site mutation in EMDReviewed