日本末梢神経学会

2015.10

日本内科学会

2015.10

日本神経学会

2015.10

Doctor

Nishikawa N, Hashiguchi A, Takashima H, Maruo Y .  X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness. .  Brain and development41 ( 2 ) 201 - 204   2019.2X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.Reviewed

Yoshimura A, Hashiguchi A, Takashima H .  Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan .  Journal of neurology, neurosurgery and psychiatry90 ( 2 ) 195 - 202   2019.2Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in JapanReviewed

Yuan JH, Hashiguchi A, Takashima H .  Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1 .  European journal of neurology25 ( 12 ) 1454 - 1461   2018.12Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1Reviewed

Higuchi Y, Hashiguchi A, Takashima H .  Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy .  Brain141 ( 6 ) 1622 - 1636   2018.6Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathyReviewed

Tanabe H, Hashiguchi A, Takashima H .  Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan .  Journal of the peripheral nervous system23 ( 1 ) 40 - 48   2018.3Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in JapanReviewed

Ikeda A, Yamashita S, Tsuyusaki Y, Tanaka M, Tanaka Y, Hashiguchi A, Takashima H, Goto T .  Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1 .  Brain and development40 ( 2 ) 155 - 158   2018.2Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1Reviewed

Hikiami R, Hashiguchi A, Takashima H, Takahashi R .  Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease .  Journal of human genetics63 ( 1 ) 89 - 92   2018.1Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset diseaseReviewed

Yuan JH, Hashiguchi A, Takashima H .  WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: a Japanese cohort study .  Clinical Genetics92 ( 6 ) 659 - 663   2017.12WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: a Japanese cohort studyReviewed

Ando M, Hashiguchi A, Takashima H .  Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan .  European journal of neurology24 ( 10 ) 1274 - 1282   2017.10Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in JapanReviewed

Kondo D, Shinoda K, Yamashita K, Yamasaki R, Hashiguchi A, Takashima H, Kira J .  A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvement .  Neuromuscular disorders27 ( 10 ) 959 - 961   2017.10A novel mutation in FGD4 causes Charcot-Marie-Tooth disease type 4H with cranial nerve involvementReviewed

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, Takashima H .  Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study. .  Journal of the Peripheral Nervous System22 ( 3 ) 191 - 199   2017.9Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Reviewed

Yoshimura A, Hashiguchi A, Takashima H .  Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants .  Clinical genetics92 ( 3 ) 274 - 280   2017.9Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variantsReviewed

Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H .  Clinical diversity caused by novel IGHMBP2 variants .  Journal of the Human Genetics62   599 - 604   2017.2Clinical diversity caused by novel IGHMBP2 variantsReviewed

Motokura E, Yamashita T, Takahashi Y, Tsunoda K, Sato K, Takemoto M, Hishikawa N, Ohta Y, Hashiguchi A, Takashima H, Abe K .  An AOA2 patient with a novel compound heterozygous SETX frame shift mutations. .  Journal of the Neurological Sciences372   294 - 296   2017.1An AOA2 patient with a novel compound heterozygous SETX frame shift mutations.

Sone J, Mori K, Inagaki T, Katsumata R, Takagi S, Yokoi S, Araki K, Kato K, Nakamura T, Koike H, Takashima H, Hashiguchi A, Kohno Y, Kurashige T, Kuriyama M, Takiyama Y, Tsuchiya M, Kitagawa N, Kawamoto M, Yoshimura H, Suto Y, Nakayasu H, Uehara N, Sugiyama H, Takahashi M, Kokubun N, Konno T, Katsuno M, Tanaka F, Iwasaki Y, Yoshida M, *Sobue G .  Clinicopathological features of adult-onset neuronal intranuclear inclusion disease .  Brain139 ( 12 ) 3170 - 3186   2016.12Clinicopathological features of adult-onset neuronal intranuclear inclusion diseaseReviewed

Hirano M, Oka N, Hashiguchi A, Ueno S, Sakamoto H, Takashima H, Higuchi Y, Kusunoki S, Nakamura Y .  Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS. .  Journal of the peripheral nervous system21 ( 4 ) 370 - 374   2016.12Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.Reviewed

Ichikawa K, Numasawa K, Takeshita S, Hashiguchi A, Takashima H .  Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C .  Pediatrics International58 ( 11 ) 1252 - 1254   2016.11Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4CReviewed

Kawarai T, Yamasaki K, Mori A, Takamatsu N, Osaki Y, Banzrai C, Miyamoto R, Oki R, Pedace L, Oriacchio A, Nodera H, Hashiguchi A, Higuchi Y, Takashima H, Nishida Y, Izumi Y, *Kaji R .  MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2 .  Journal of neurology, neurosurgery and psychiatry87 ( 11 ) 1263 - 1265   2016.11MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2Reviewed

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 .  Annals of Neurology   2016.3Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2Reviewed

Hashiguchi A, Takashima H .  Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs .  Journal of the Peripheral Nervous System   2014.12Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signsReviewed

Z. Zhao, A. Hashiguchi, J Hu, Y. Sakiyama, Y. Okamoto, S. Tokunaga, L. Zhu, H. Shen, H. Takashima .  Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy .  Neurology   2012.5Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathyReviewed

橋口昭大　中村友紀　徳永章子　岡本裕嗣　有村公良　小池春樹　田中章景　祖父江元　髙嶋博 .  シャルコー・マリー・トゥース病200例のマイクロアレイDNAチップによる遺伝子診断 .  末梢神経   2011.6シャルコー・マリー・トゥース病200例のマイクロアレイDNAチップによる遺伝子診断Invited Reviewed

Annual Review 神経 2012

橋口昭大　高嶋博（ Role： Joint author ,  Charcot-Marie-Tooth病の網羅的遺伝子診断）

中外医学社  2012.1 

症候群ハンドブック

橋口昭大　高嶋博（ Role： Joint author ,  シャルコー・マリー・トゥース病）

中山書店  2011.5 

慢性進行性外眼筋麻痺/Kearns-Sayre症候群

橋口昭大　樋口逸郎

Clinical Neuroscience   2006.6

筋肉痛・筋痛

橋口昭大　有村公良

クリニカ   2005.2

筋炎の治療　ステロイドの使い方

橋口昭大　納光弘

Clinical Neuroscience   2004.10

橋口昭大　樋口逸郎   小児期発症の難治性vacuolar myositisの長期経過と原因究明に関する研究  

希少難治性筋疾患に関する調査研究班　IBM分科会  厚生労働省

橋口昭大　岡本裕嗣　高嶋博   次世代シークエンサーを利用したCharcot-Marie-Tooth病の包括的遺伝子診断と新規治療薬開発への展望  

難治性ニューロパチーの診断技術と治療法の開発に関する研究班会議  厚生労働省

Akihiro Hashiguchi, Hiroshi Takashima   A comprehensive genetic analysis of Japanese patients with Charcot-Marie-Tooth disease using a next generation sequencing system   International conference

American Society of Human Genetics Annual Meeting 2013  American Society of Human Genetics

橋口昭大　樋口逸郎   Collagen VIの部分欠損を認めるUllrich型先天性筋ジストロフィー患者２例の遺伝子学的検討  

筋ジストロフィーおよび関連疾患の診断・治療開発を目指した基盤研究班会議  厚生労働省

橋口昭大　高嶋博   Charcot-Marie-Tooth病の包括的遺伝子診断に関する研究  

難治性ニューロパチーの診断技術と治療法の開発に関する研究班会議  厚生労働省

Akihiro Hashiguchi, Hiroshi Takashima   A comprehensive genetic analysis of 421 Japanese patients with Charcot-Marie-Tooth disease using DNA microarray chips   International conference

American Society of Human Genetics Annual Meeting 2012  American Society of Human Genetics

橋口昭大　高嶋博　有村公良   Charcot-Marie-Tooth病の包括的遺伝子診断法の開発　実践とその問題点  

シャルコー・マリー・トゥース病の診断・治療・ケアに関する研究班会議  厚生労働省

橋口昭大　高嶋博　有村公良   Charcot-Marie-Tooth病の包括的遺伝子診断と臨床病型  

難治性ニューロパチーの診断技術と治療法の開発に関する研究班会議  厚生労働省

橋口昭大　樋口逸郎   遺伝子学的アプローチとBethlem myopathy familyの追跡報告  

筋ジストロフィーおよび関連疾患の診断・治療開発を目指した基盤研究班会議  厚生労働省

橋口昭大　高嶋博　有村公良   Charcot-Marie-Tooth病200例のマイクロアレイDNAチップによる遺伝子解析  

難治性ニューロパチーの診断技術と治療法の開発に関する研究班会議  厚生労働省

Akihiro Hashiguchi, Itsuro Higuchi   Mitochondrial eccephalomyopathy with sideroblastic anemia in two sibling patients: second report focusing on complex I deficiency   International conference

XIIth International Congress on Neuromuscular Diseases  XIIth ICNMD事務局

Akihiro Hashiguchi, Itsuro Higuchi   Clinical and molecular features of mitochondrial encepahalomyopathy with sidereblastic anemia in two sibling tatients.   International conference

XIth International Congress on Neuromuscular Diseases  XIth ICNMD事務局