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Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Dzinovic, Ivana; Skorvánek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C; Jech, Robert; Winkelmann, Juliane; Zech, Michael.
Afiliação
  • Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Skorvánek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Pavelekova P; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Zhao C; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.
  • Keren B; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.
  • Whalen S; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.
  • Bakhtiari S; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.
  • Chih Jin S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
  • Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Jech R; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA.
  • Winkelmann J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, USA.
  • Zech M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
Ann Clin Transl Neurol ; 8(4): 951-955, 2021 04.
Article em En | MEDLINE | ID: mdl-33675180
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paralisia Cerebral / Proteínas Supressoras de Tumor / Proteínas F-Box / Distonia / Espasticidade Muscular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2021 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: Paralisia Cerebral / Proteínas Supressoras de Tumor / Proteínas F-Box / Distonia / Espasticidade Muscular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article