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Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Barcia, Giulia; Rio, Marlène; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean-Paul; Steffann, Julie; Procaccio, Vincent; Boddaert, Nathalie; Rötig, Agnès; Metodiev, Metodi D; Ruzzenente, Benedetta.
Afiliação
  • Barcia G; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Rio M; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Assouline Z; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Zangarelli C; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Gueguen N; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Dumas VD; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Marcorelles P; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Schiff M; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France.
  • Slama A; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France.
  • Barth M; Department of Pathology, CHRU Brest, Brest, France.
  • Hully M; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • de Lonlay P; Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, Paris, France.
  • Munnich A; Biochemistry laboratory, Bicêtre Hospital, Le Kremlin Bicêtre, France.
  • Desguerre I; UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, Angers, France.
  • Bonnefont JP; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Steffann J; Reference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Paris Descartes University, INEM-1151, G2M, MetabERN, Paris, France.
  • Procaccio V; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Boddaert N; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Rötig A; Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
  • Metodiev MD; Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
  • Ruzzenente B; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, Paris Descartes University, Paris, France.
Hum Mutat ; 41(2): 397-402, 2020 02.
Article em En | MEDLINE | ID: mdl-31680380
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Predisposição Genética para Doença / Fator G para Elongação de Peptídeos / Proteínas Mitocondriais / Estudos de Associação Genética / Neuroimagem / Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica / Predisposição Genética para Doença / Fator G para Elongação de Peptídeos / Proteínas Mitocondriais / Estudos de Associação Genética / Neuroimagem / Fibroblastos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article