Your browser doesn't support javascript.
loading
Mutations in TAF8 cause a neurodegenerative disorder.
Wong, Keit Men; Jepsen, Wayne M; Efthymiou, Stephanie; Salpietro, Vincenzo; Sanchez-Castillo, Meredith; Yip, Janice; Kriouile, Yamna; Diegmann, Susann; Dreha-Kulaczewski, Steffi; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Toosi, Mehran Beiraghi; Akhondian, Javad; Ghayoor Karimiani, Ehsan; Hummel-Abmeier, Hannah; Huppke, Brenda; Houlden, Henry; Gärtner, Jutta; Maroofian, Reza; Huppke, Peter.
Afiliação
  • Wong KM; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
  • Jepsen WM; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.
  • Efthymiou S; Translational Genomics Research Institute, Neurogenomics Division-Huentelman Lab, Phoenix, AZ 85004, USA.
  • Salpietro V; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Sanchez-Castillo M; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Yip J; Translational Genomics Research Institute, Neurogenomics Division-Huentelman Lab, Phoenix, AZ 85004, USA.
  • Kriouile Y; Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK.
  • Diegmann S; Unit of Neuropediatrics and Neurometabolism, Pediatric Department 2, Rabat Children's Hospital, BP 6527 Rabat, Morocco.
  • Dreha-Kulaczewski S; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.
  • Altmüller J; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.
  • Thiele H; Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117 Berlin, Germany.
  • Nürnberg P; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), 10117 Berlin, Germany.
  • Toosi MB; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Akhondian J; Cologne Center for Genomics (CCG) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, 50931 Cologne, Germany.
  • Ghayoor Karimiani E; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 45785, Iran.
  • Hummel-Abmeier H; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 45785, Iran.
  • Huppke B; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
  • Houlden H; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 45785, Iran.
  • Gärtner J; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, 37075 Goettingen, Germany.
  • Maroofian R; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.
  • Huppke P; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.
Brain ; 145(9): 3022-3034, 2022 09 14.
Article em En | MEDLINE | ID: mdl-35759269
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Fator de Transcrição TFIID / Microcefalia Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Neurodegenerativas / Fator de Transcrição TFIID / Microcefalia Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article