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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif, Majida; Nasca, Alessia; Thompson, Kyle; Gerber, Sylvie; Makowski, Christine; Mazaheri, Neda; Bris, Céline; Goudenège, David; Legati, Andrea; Maroofian, Reza; Shariati, Gholamreza; Lamantea, Eleonora; Hopton, Sila; Ardissone, Anna; Moroni, Isabella; Giannotta, Melania; Siegel, Corinna; Strom, Tim M; Prokisch, Holger; Vignal-Clermont, Catherine; Derrien, Sabine; Zanlonghi, Xavier; Kaplan, Josseline; Hamel, Christian P; Leruez, Stephanie; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal; White, Frances E; Hardy, Steven A; Barbosa, Inês A; Simpson, Michael A; Vara, Roshni; Perdomo Trujillo, Yaumara; Galehdari, Hamind; Deshpande, Charu; Haack, Tobias B; Rozet, Jean-Michel; Taylor, Robert W; Ghezzi, Daniele; Amati-Bonneau, Patrizia; Lenaers, Guy.
Afiliação
  • Charif M; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Nasca A; Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England.
  • Gerber S; Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris, France.
  • Makowski C; Department of Paediatrics, Technische Universität München, Munich, Germany.
  • Mazaheri N; Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Bris C; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
  • Goudenège D; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Legati A; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Maroofian R; Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy.
  • Shariati G; University of Exeter Medical School, Research, Innovation, Learning and Development, Wellcome Wolfson Centre, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, England.
  • Lamantea E; Department of Medical Genetic, Faculty of Medicine, Ahvaz Jundishapur, University of Medical Sciences, Ahvaz, Iran.
  • Hopton S; Unit of Molecular Neurogenetics, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy.
  • Ardissone A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England.
  • Moroni I; Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy.
  • Giannotta M; Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Foundation of the Carlo Besta Neurological Institute, Milan, Italy.
  • Siegel C; Child Neurology Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Institute of Neurological Sciences, Bologna, Italy.
  • Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Vignal-Clermont C; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
  • Derrien S; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Zanlonghi X; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
  • Kaplan J; Département de Neurochirurgie, Service Explorations Neuro-Ophtalmologiques, Fondation Rothschild, Paris, France.
  • Hamel CP; Département de Neurochirurgie, Service Explorations Neuro-Ophtalmologiques, Fondation Rothschild, Paris, France.
  • Leruez S; Clinique Pluridisciplinaire Jules Verne, Nantes, France.
  • Procaccio V; Laboratory of Genetics in Ophthalmology, INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris, France.
  • Bonneau D; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.
  • Reynier P; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • White FE; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Hardy SA; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Barbosa IA; MitoLab Team, Unités Mixtes de Recherche Centre National de la Recherche Scientifique 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.
  • Simpson MA; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England.
  • Vara R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, England.
  • Perdomo Trujillo Y; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, England.
  • Galehdari H; Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, England.
  • Deshpande C; Department of Paediatric Inherited Metabolic Diseases, Evelina Children's Hospital, London, England.
  • Haack TB; Centre de Référence Pour Les Affections Rares en Génétique Ophtalmologique, CHU de Strasbourg, Strasbourg, France.
  • Rozet JM; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.
  • Taylor RW; Clinical Genetics Unit, Guy's and St Thomas' National Health Service Foundation Trust, London, England.
  • Ghezzi D; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Amati-Bonneau P; Institute of Human Genetics, Helmholtz Zentrum München, Munich, Germany.
  • Lenaers G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
JAMA Neurol ; 75(1): 105-113, 2018 01 01.
Article em En | MEDLINE | ID: mdl-29181510
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças do Sistema Nervoso Central / Atrofia Óptica / Proteínas Mitocondriais / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: JAMA Neurol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Doenças do Sistema Nervoso Central / Atrofia Óptica / Proteínas Mitocondriais / Mutação Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: JAMA Neurol Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França