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Long-read sequencing identified intronic (GGCCTG)n expansion in NOP56 in one SCA36 family and literature review.
Wang, Qunfeng; Zhang, Chao; Liu, Shihua; Liu, Taotao; Ni, Ruilong; Liu, Xiaoli; Zhong, Ping; Wu, Qian; Xu, Ting; Ke, Huiyi; Tian, Wotu; Cao, Li.
Afiliação
  • Wang Q; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.
  • Zhang C; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.
  • Liu S; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China.
  • Liu T; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China; School of Medicine, Anhui University of Science and Technology, Huainan 232001, China.
  • Ni R; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China; School of Medicine, Anhui University of Science and Technology, Huainan 232001, China.
  • Liu X; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China; Department of Neurology, Shanghai Fengxian District Central Hospital, Shanghai 201400, China.
  • Zhong P; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China.
  • Wu Q; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China.
  • Xu T; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.
  • Ke H; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.
  • Tian W; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China. Electronic address: wotu_tian@163.com.
  • Cao L; Department of Neurology, Suzhou Hospital of Anhui Medical University, Suzhou, Anhui Province 234000, China; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China. Electronic address: caoli2000@yeah.net.
Clin Neurol Neurosurg ; 223: 107503, 2022 12.
Article em En | MEDLINE | ID: mdl-36368168
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Ataxias Espinocerebelares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Clin Neurol Neurosurg Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Holanda
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Ataxias Espinocerebelares Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Clin Neurol Neurosurg Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Holanda