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The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.
Pauly, Martje G; Korenke, G Christoph; Diaw, Sokhna Haissatou; Grözinger, Anne; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; González, Victoria; Macaya, Alfons; Serrano Antón, Ana Teresa; Peterlin, Borut; Bozovic, Ivana Babic; Maver, Ales; Münchau, Alexander; Lohmann, Katja.
Afiliação
  • Pauly MG; Institute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.
  • Korenke GC; Institute of Systems Motor Science, University of Luebeck, 23562 Luebeck, Germany.
  • Diaw SH; Department of Neurology, University Hospital Schleswig Holstein, 23562 Luebeck, Germany.
  • Grözinger A; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany.
  • Cazurro-Gutiérrez A; Institute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.
  • Pérez-Dueñas B; Institute of Neurogenetics, University of Luebeck, Ratzeburger Allee 160, 23562 Luebeck, Germany.
  • González V; Pediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Macaya A; Pediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Serrano Antón AT; Center for Biomedical Network Research on Rare Diseases (CIBERER), 08035 Barcelona, Spain.
  • Peterlin B; Department of Neurology, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Bozovic IB; Pediatric Neurology Research Group, Autonomous University of Barcelona, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Maver A; Clinical Genetic Section, Pediatric Service, Hospital Clinico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain.
  • Münchau A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
  • Lohmann K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Genes (Basel) ; 14(4)2023 03 29.
Article em En | MEDLINE | ID: mdl-37107582
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Transtornos Parkinsonianos Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triptofano-tRNA Ligase / Transtornos Parkinsonianos Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article