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Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
Xu, Ling; Wang, Yaru; Wang, Wenqing; Zhang, Rui; Zhao, Dandan; Yun, Yan; Liu, Fuchen; Zhao, Yuying; Yan, Chuanzhu; Lin, Pengfei.
Afiliação
  • Xu L; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Wang Y; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Wang W; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Zhang R; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Zhao D; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Yun Y; Department of Radiology, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Liu F; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Zhao Y; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China lpfsdu@foxmail.com zyy72@126.com.
  • Yan C; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China.
  • Lin P; Department of Neurology and Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Jinan, Shandong 250012, China lpfsdu@foxmail.com zyy72@126.com.
J Med Genet ; 61(4): 325-331, 2024 Mar 21.
Article em En | MEDLINE | ID: mdl-37890998
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Paraplegia Espástica Hereditária / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Paraplegia Espástica Hereditária / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article