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Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi, Meriem; Charif, Majida; Kraoua, Ichraf; Fassatoui, Meriem; Dallali, Hamza; Desquiret-Dumas, Valerie; Bris, Céline; Goudenège, David; Drissi, Cyrine; Galaï, Saïd; Ouerhani, Slah; Procaccio, Vincent; Amati-Bonneau, Patrizia; Abdelhak, Sonia; Ben Youssef-Turki, Ilhem; Lenaers, Guy; Kefi, Rym.
Afiliação
  • Hechmi M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia.
  • Charif M; National Institute of Applied Science and Technology, University of Carthage, Tunis, Tunisia.
  • Kraoua I; University of Tunis El Manar, 2092 El Manar I Tunis, Tunisia.
  • Fassatoui M; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France.
  • Dallali H; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Morocco.
  • Desquiret-Dumas V; University of Tunis El Manar, 2092 El Manar I Tunis, Tunisia.
  • Bris C; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
  • Goudenège D; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia.
  • Drissi C; University of Tunis El Manar, 2092 El Manar I Tunis, Tunisia.
  • Galaï S; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia.
  • Ouerhani S; University of Tunis El Manar, 2092 El Manar I Tunis, Tunisia.
  • Procaccio V; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France.
  • Amati-Bonneau P; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Abdelhak S; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France.
  • Ben Youssef-Turki I; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Lenaers G; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.
  • Kefi R; Department of Neuroradiology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
Biosci Rep ; 42(9)2022 09 30.
Article em En | MEDLINE | ID: mdl-36093993
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article