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The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.
Yu, Jiaxi; Deng, Jianwen; Guo, Xueyu; Shan, Jingli; Luan, Xinghua; Cao, Li; Zhao, Juan; Yu, Meng; Zhang, Wei; Lv, He; Xie, Zhiying; Meng, LingChao; Zheng, Yiming; Zhao, Yawen; Gang, Qiang; Wang, Qingqing; Liu, Jing; Zhu, Min; Zhou, Binbin; Li, Pidong; Liu, Yinzhe; Wang, Yang; Yan, Chuanzhu; Hong, Daojun; Yuan, Yun; Wang, Zhaoxia.
Afiliação
  • Yu J; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Deng J; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Guo X; Grandomics Biosciences, Beijing 100176, China.
  • Shan J; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan 250000, Shandong, China.
  • Luan X; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao 266035, Shandong, China.
  • Cao L; Brain Science Research Institute, Shandong University, Jinan 250000, Shandong, China.
  • Zhao J; Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200030, China.
  • Yu M; Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200030, China.
  • Zhang W; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Lv H; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Xie Z; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Meng L; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Zheng Y; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Zhao Y; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Gang Q; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Wang Q; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Liu J; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Zhu M; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Zhou B; Department of Neurology, Peking University First Hospital, Beijing 100034, China.
  • Li P; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China.
  • Liu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang 330006, China.
  • Wang Y; Grandomics Biosciences, Beijing 100176, China.
  • Yan C; Grandomics Biosciences, Beijing 100176, China.
  • Hong D; Grandomics Biosciences, Beijing 100176, China.
  • Yuan Y; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan 250000, Shandong, China.
  • Wang Z; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao 266035, Shandong, China.
Brain ; 144(6): 1819-1832, 2021 07 28.
Article em En | MEDLINE | ID: mdl-33693509

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Distrofias Musculares Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Expansão das Repetições de Trinucleotídeos / Distrofias Musculares Idioma: En Ano de publicação: 2021 Tipo de documento: Article