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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.
Trinh, Joanne; Lüth, Theresa; Schaake, Susen; Laabs, Björn-Hergen; Schlüter, Kathleen; Laß, Joshua; Pozojevic, Jelena; Tse, Ronnie; König, Inke; Jamora, Roland Dominic; Rosales, Raymond L; Brüggemann, Norbert; Saranza, Gerard; Diesta, Cid Czarina E; Kaiser, Frank J; Depienne, Christel; Pearson, Christopher E; Westenberger, Ana; Klein, Christine.
Afiliação
  • Trinh J; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Lüth T; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Schaake S; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Laabs BH; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
  • Schlüter K; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Laß J; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Pozojevic J; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Tse R; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • König I; Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany.
  • Jamora RD; Department of Neurosciences, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
  • Rosales RL; Department of Neurology and Psychiatry, University of Santo Tomas and the CNS-Metropolitan Medical Center, Manila, Philippines.
  • Brüggemann N; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
  • Saranza G; Department of Neurology, University of Lübeck, Lübeck, Germany.
  • Diesta CCE; Section of Neurology, Department of Internal Medicine, Chong Hua Hospital, Cebu, Philippines.
  • Kaiser FJ; Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati City, Philippines.
  • Depienne C; Institute for Human Genetics at the University Hospital Essen, Essen, Germany.
  • Pearson CE; Center for Rare Diseases (Essenser Zentrum für Seltene Erkrankungen-EZSE) at the University Hospital Essen, Essen, Germany.
  • Westenberger A; Institute for Human Genetics at the University Hospital Essen, Essen, Germany.
  • Klein C; Program of Genetics and Genome Biology, The Hospital for Sick Children, The Peter Gilgan Centre for Research and Learning, Toronto, Canada.
Brain ; 146(3): 1075-1082, 2023 03 01.
Article em En | MEDLINE | ID: mdl-35481544
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Distúrbios Distônicos / Doenças Genéticas Ligadas ao Cromossomo X Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Distúrbios Distônicos / Doenças Genéticas Ligadas ao Cromossomo X Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article