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Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Wortmann, Saskia B; Timal, Sharita; Venselaar, Hanka; Wintjes, Liesbeth T; Kopajtich, Robert; Feichtinger, René G; Onnekink, Carla; Mühlmeister, Mareike; Brandt, Ulrich; Smeitink, Jan A; Veltman, Joris A; Sperl, Wolfgang; Lefeber, Dirk; Pruijn, Ger; Stojanovic, Vesna; Freisinger, Peter; V Spronsen, Francjan; Derks, Terry Gj; Veenstra-Knol, Hermine E; Mayr, Johannes A; Rötig, Agnes; Tarnopolsky, Mark; Prokisch, Holger; Rodenburg, Richard J.
Afiliação
  • Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Timal S; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Venselaar H; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Wintjes LT; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kopajtich R; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Feichtinger RG; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Onnekink C; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Mühlmeister M; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Brandt U; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Smeitink JA; Department of Biomolecular Chemistry, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Veltman JA; Department of Biomolecular Chemistry, Institute for Molecules and Materials, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sperl W; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lefeber D; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pruijn G; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Stojanovic V; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Freisinger P; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • V Spronsen F; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • Derks TG; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Veenstra-Knol HE; Department of Biomolecular Chemistry, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Mayr JA; Department of Biomolecular Chemistry, Institute for Molecules and Materials, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rötig A; School of Medicine, University of Novi Sad, Novi Sad, Serbia.
  • Tarnopolsky M; Institute for Child and Youth Health Care of Vojvodina, Intensive Care Unit, Novi Sad, Serbia.
  • Prokisch H; Children's Hospital, Klinikum am Steinenberg, Reutlingen, Germany.
  • Rodenburg RJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center of Groningen, Groningen, the Netherlands.
Hum Mutat ; 38(12): 1786-1795, 2017 12.
Article em En | MEDLINE | ID: mdl-28905505
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalomiopatias Mitocondriais / Doenças Mitocondriais / Aminoacil-tRNA Sintetases / Deficiência Intelectual Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encefalomiopatias Mitocondriais / Doenças Mitocondriais / Aminoacil-tRNA Sintetases / Deficiência Intelectual Limite: Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria País de publicação: Estados Unidos