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Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
Hiramuki, Yosuke; Kure, Yuriko; Saito, Yoshihiko; Ogawa, Megumu; Ishikawa, Keiko; Mori-Yoshimura, Madoka; Oya, Yasushi; Takahashi, Yuji; Kim, Dae-Seong; Arai, Noriko; Mori, Chiaki; Matsumura, Tsuyoshi; Hamano, Tadanori; Nakamura, Kenichiro; Ikezoe, Koji; Hayashi, Shinichiro; Goto, Yuichi; Noguchi, Satoru; Nishino, Ichizo.
Afiliação
  • Hiramuki Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Kure Y; Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Ogawa M; Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Ishikawa K; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Mori-Yoshimura M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Kim DS; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Arai N; Department of Neurology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea.
  • Mori C; Department of Neurology and Cerebrovascular Medicine, Saitama Medical University International Medical Center, Saitama, Japan.
  • Matsumura T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Osaka, Japan.
  • Hamano T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Osaka, Japan.
  • Nakamura K; Division of Neurology, Department of Aging and Dementia, Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
  • Ikezoe K; Department of Neurology, National Hospital Organization Nishi-Beppu National Hospital, Beppu, Japan.
  • Hayashi S; Department of Neurology, Matsuyama Red Cross Hospital, Matsuyama, Japan.
  • Goto Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Noguchi S; Medical Genome Center, National Center of Neurology and Psychiatry, Kodaira, Japan.
  • Nishino I; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
J Transl Med ; 20(1): 517, 2022 11 08.
Article em En | MEDLINE | ID: mdl-36348371
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular Facioescapuloumeral Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão