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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Djordjevic, Djurdja; Pinard, Maxime; Gauthier, Marie-Soleil; Smith-Hicks, Constance; Hoffman, Trevor L; Wolf, Nicole I; Oegema, Renske; van Binsbergen, Ellen; Baskin, Berivan; Bernard, Geneviève; Fribourg, Sébastien; Coulombe, Benoit; Yoon, Grace.
  • Djordjevic D; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Pinard M; Translational Proteomics Research Unit, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Gauthier MS; Translational Proteomics Research Unit, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada.
  • Smith-Hicks C; Division of Neurogenetics, Department of Neurology, Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
  • Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, 92801, USA.
  • Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, 1081 HV Amsterdam, the Netherlands.
  • Oegema R; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3584 EA Utrecht, the Netherlands.
  • Baskin B; GeneDx, Gaithersburg, MD, 20877, USA.
  • Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, and Child Health and Human Development Program, Research Institute of the McGill University Health Centre, M
  • Fribourg S; Université de Bordeaux, INSERM U1212, CNRS 5320, Bordeaux, 33076, France.
  • Coulombe B; Translational Proteomics Research Unit, Institut de Recherches Cliniques de Montréal, Montréal, QC H2W 1R7, Canada; Department of Biochemistry and Molecular Medicine, Université de Montréal, Montréal, QC, H3C 3J7, Canada.
  • Yoon G; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, M5G 1X8, Canada. Electroni
Am J Hum Genet ; 108(1): 186-193, 2021 01 07.
Article en En | MEDLINE | ID: mdl-33417887
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / ARN Polimerasa III / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxia / ARN Polimerasa III / Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article