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ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Park, Hyung Jun; Hong, Young Bin; Choi, Young-Chul; Lee, Jinho; Kim, Eun Ja; Lee, Ji-Su; Mo, Won Min; Ki, Soo Mi; Kim, Hyo In; Kim, Hye Jin; Hyun, Young Se; Hong, Hyun Dae; Nam, Kisoo; Jung, Sung Chul; Kim, Sang-Beom; Kim, Se Hoon; Kim, Deok-Ho; Oh, Ki-Wook; Kim, Seung Hyun; Yoo, Jeong Hyun; Lee, Ji Eun; Chung, Ki Wha; Choi, Byung-Ok.
Afiliação
  • Park HJ; Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, South Korea.
  • Hong YB; Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea.
  • Choi YC; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Lee J; Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea.
  • Kim EJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Lee JS; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Mo WM; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea.
  • Ki SM; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Kim HI; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea.
  • Kim HJ; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea.
  • Hyun YS; Department of Biological Science, Kongju National University, Gongju, South Korea.
  • Hong HD; Department of Biological Science, Kongju National University, Gongju, South Korea.
  • Nam K; Department of Biological Science, Kongju National University, Gongju, South Korea.
  • Jung SC; Department of Chemistry, New York University, New York, NY.
  • Kim SB; Department of Biochemistry, Ewha Womans University School of Medicine, Seoul, South Korea.
  • Kim SH; Department of Neurology, Kyung Hee University College of Medicine, Kangdong Hospital, Seoul, South Korea.
  • Kim DH; Department of Pathology, Yonsei University College of Medicine, Seoul, South Korea.
  • Oh KW; Department of Bioengineering, University of Washington, Seattle, WA.
  • Kim SH; Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
  • Yoo JH; Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
  • Lee JE; Department of Radiology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, South Korea.
  • Chung KW; Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University, Seoul, South Korea.
  • Choi BO; Samsung Genome Institute, Samsung Medical Center, Seoul, South Korea.
Ann Neurol ; 79(2): 231-43, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26506222

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenilossuccinato Sintase / Miopatias Distais Limite: Adult / Animals / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Adenilossuccinato Sintase / Miopatias Distais Limite: Adult / Animals / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article