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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus.
Wagner, Matias; Lévy, Jonathan; Jung-Klawitter, Sabine; Bakhtiari, Somayeh; Monteiro, Fabiola; Maroofian, Reza; Bierhals, Tatjana; Hempel, Maja; Elmaleh-Bergès, Monique; Kitajima, Joao P; Kim, Chong A; Salomao, Julia G; Amor, David J; Cooper, Monica S; Perrin, Laurence; Pipiras, Eva; Neu, Axel; Doosti, Mohammad; Karimiani, Ehsan G; Toosi, Mehran B; Houlden, Henry; Jin, Sheng Chih; Si, Yue C; Rodan, Lance H; Venselaar, Hanka; Kruer, Michael C; Kok, Fernando; Hoffmann, Georg F; Strom, Tim M; Wortmann, Saskia B; Tabet, Anne-Claude; Opladen, Thomas.
Afiliación
  • Wagner M; Institute of Human Genetics, Faculty of Medicine, Technical University München, Munich, Germany. matias.wagner@mri.tum.de.
  • Lévy J; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Neuherberg, Germany. matias.wagner@mri.tum.de.
  • Jung-Klawitter S; Institut für Neurogenomik, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Neuherberg, Germany. matias.wagner@mri.tum.de.
  • Bakhtiari S; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Monteiro F; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital, Heidelberg, Germany.
  • Maroofian R; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Bierhals T; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Hempel M; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.
  • Elmaleh-Bergès M; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Kitajima JP; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kim CA; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Salomao JG; Department of Pediatric Radiology, Robert Debré Hospital, AP-HP, Paris, France.
  • Amor DJ; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.
  • Cooper MS; Genetic Unit, Instituto da Criança-HCFMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Perrin L; Genetic Unit, Instituto da Criança-HCFMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Pipiras E; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Melbourne, VIC, Australia.
  • Neu A; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Doosti M; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Melbourne, VIC, Australia.
  • Karimiani EG; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Toosi MB; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Houlden H; Department of Cytogenetics, Jean-Verdier Hospital, Paris 13 University, Embryology and Histology, AP-HP, Bondy, France.
  • Jin SC; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Si YC; Department of Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Rodan LH; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's, University, London, UK.
  • Venselaar H; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Kruer MC; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Kok F; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
  • Hoffmann GF; GeneDx, Gaithersburg, MD, USA.
  • Strom TM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Wortmann SB; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Tabet AC; Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Opladen T; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.
Genet Med ; 22(6): 1061-1068, 2020 06.
Article en En | MEDLINE | ID: mdl-32099069
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Espasticidad Muscular Tipo de estudio: Etiology_studies / Guideline Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Espasticidad Muscular Tipo de estudio: Etiology_studies / Guideline Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania