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Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.
Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M A; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Penelope E; Enrico, Bertini; Pronicka, Ewa; Ghezzi, Daniele; Taylor, Robert W; Diodato, Daria.
Afiliação
  • Bruni F; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Di Meo I; Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
  • Bellacchio E; Genetics and Rare Diseases, Research Division, 'Bambino Gesù' Children Hospital, Rome, Italy.
  • Webb BD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Chrzanowska-Lightowlers ZMA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • He L; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Skorupa E; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.
  • Moroni I; Child Neurology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Ardissone A; Molecular Neurogenetics Unit, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy.
  • Walczak A; Child Neurology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy.
  • Tyynismaa H; Department of Molecular and Translational Medicine DIMET, University of Milan-Bicocca, Milan, Italy.
  • Isohanni P; Department of Medical Genetics, Centre of Biostructure, Medical University of Warsaw, Warsaw, Poland.
  • Mandel H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Prokisch H; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
  • Haack T; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Bonnen PE; Institute of Human Genetics and Metabolic Diseases, Galilee Medical Center, Nahariya, Israel.
  • Enrico B; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Pronicka E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Ghezzi D; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Taylor RW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Diodato D; Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Ges.' Children's Research Hospital, Rome, Italy.
Hum Mutat ; 39(4): 563-578, 2018 04.
Article em En | MEDLINE | ID: mdl-29314548
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Valina-tRNA Ligase / Encefalomiopatias Mitocondriais / ATPases Mitocondriais Próton-Translocadoras / Antígenos HLA Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Valina-tRNA Ligase / Encefalomiopatias Mitocondriais / ATPases Mitocondriais Próton-Translocadoras / Antígenos HLA Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido