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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Neilson, Derek E; Zech, Michael; Hufnagel, Robert B; Slone, Jesse; Wang, Xinjian; Homan, Shelli; Gutzwiller, Lisa M; Leslie, Elizabeth J; Leslie, Nancy D; Xiao, Jianfeng; Hedera, Peter; LeDoux, Mark S; Gebelein, Brian; Wilbert, Friederike; Eckenweiler, Matthias; Winkelmann, Juliane; Gilbert, Donald L; Huang, Taosheng.
Afiliação
  • Neilson DE; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Hufnagel RB; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Slone J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Wang X; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Homan S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Gutzwiller LM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Leslie EJ; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Leslie ND; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Xiao J; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Hedera P; Departments of Neurology and Anatomy and Neurobiology, The University of Tennessee Health Science Center, Memphis, Tennessee, USA.
  • LeDoux MS; Department of Neurology, University of Louisville, Louisville, Kentucky, USA.
  • Gebelein B; Department of Psychology, University of Memphis and Veracity Neuroscience LLC, Memphis, Tennessee, USA.
  • Wilbert F; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Eckenweiler M; Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.
  • Winkelmann J; Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg im Breisgau, Germany.
  • Gilbert DL; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Huang T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Mov Disord ; 37(2): 375-383, 2022 02.
Article em En | MEDLINE | ID: mdl-34636445
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Distúrbios Distônicos / Distonia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Distúrbios Distônicos / Distonia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article