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Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch.
Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Príhodová, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina; Zech, Michael.
Afiliação
  • Dzinovic I; Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany.
  • Graf E; Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
  • Brugger M; Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
  • Berutti R; Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
  • Príhodová I; Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany.
  • Blaschek A; Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
  • Winkelmann J; Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic.
  • Jech R; Dr. v. Hauner Children's Hospital, Department of Pediatric Neurology and Developmental Medicine Ludwig-Maximilians-Universität Munich Germany.
  • Vill K; Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany.
  • Zech M; Institute of Human Genetics, School of Medicine Technical University of Munich Munich Germany.
Mov Disord Clin Pract ; 10(7): 1159-1161, 2023 Jul.
Article em En | MEDLINE | ID: mdl-37476319
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article