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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap, Zheng Yie; Park, Yo Han; Wortmann, Saskia B; Gunning, Adam C; Ezer, Shlomit; Lee, Sukyeong; Duraine, Lita; Wilichowski, Ekkehard; Wilson, Kate; Mayr, Johannes A; Wagner, Matias; Li, Hong; Kini, Usha; Black, Emily Davis; Monaghan, Kristin G; Lupski, James R; Ellard, Sian; Westphal, Dominik S; Harel, Tamar; Yoon, Wan Hee.
Afiliación
  • Yap ZY; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
  • Park YH; Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
  • Wortmann SB; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Gunning AC; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Ezer S; Radboud Centre for Mitochondrial Medicine (RCMM), Amalia Children's Hospital, Nijmegen, The Netherlands.
  • Lee S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK.
  • Duraine L; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, EX2 5DW, UK.
  • Wilichowski E; Department of Genetics, Hadassah Medical Center, POB 12000, 9112001, Jerusalem, Israel.
  • Wilson K; Faculty of Medicine, Hebrew University of Jerusalem, POB 12000, 9112001, Jerusalem, Israel.
  • Mayr JA; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
  • Wagner M; Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine, Houston, TX, USA.
  • Li H; Department of Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Georg-August-Universität Göttingen, Göttingen, Germany.
  • Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Black ED; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Monaghan KG; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Lupski JR; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Ellard S; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.
  • Westphal DS; Department of Pediatrics, School of Medicine, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.
  • Harel T; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Yoon WH; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA.
Genome Med ; 13(1): 55, 2021 04 12.
Article en En | MEDLINE | ID: mdl-33845882
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Mitocondriales / ATPasas Asociadas con Actividades Celulares Diversas / Proteínas de la Membrana / Mitocondrias / Neuronas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Mitocondriales / ATPasas Asociadas con Actividades Celulares Diversas / Proteínas de la Membrana / Mitocondrias / Neuronas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genome Med Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos