{"id":"https://openalex.org/W2997364368","doi":"https://doi.org/10.1038/s41433-019-0755-x","title":"First characterization of LHON pedigrees in North Africa","display_name":"First characterization of LHON pedigrees in North Africa","publication_year":2020,"publication_date":"2020-01-02","ids":{"openalex":"https://openalex.org/W2997364368","doi":"https://doi.org/10.1038/s41433-019-0755-x","mag":"2997364368","pmid":"https://pubmed.ncbi.nlm.nih.gov/31896800","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7784990"},"language":"en","primary_location":{"id":"doi:10.1038/s41433-019-0755-x","doi":"https://doi.org/10.1038/s41433-019-0755-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41433-019-0755-x","pdf_url":"https://www.nature.com/articles/s41433-019-0755-x.pdf","source":{"id":"https://openalex.org/S167047176","display_name":"Eye","issn_l":"0078-5334","issn":["0078-5334","0950-222X","1476-5454"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eye","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://www.nature.com/articles/s41433-019-0755-x.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5003433204","display_name":"Aymane Bouzidi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210125507","display_name":"Chouaib Doukkali University","ror":"https://ror.org/036kgyt43","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210125507"]},{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR","MA"],"is_corresponding":false,"raw_author_name":"Aymane Bouzidi","raw_affiliation_strings":["Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","institution_ids":["https://openalex.org/I4210151823"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"raw_affiliation_string":"Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco","institution_ids":["https://openalex.org/I4210125507"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070228636","display_name":"Nisrine Aboussair","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119856527","display_name":"Cadi Ayyad University","ror":"https://ror.org/04xf6nm78","country_code":"MA","type":"education","lineage":["https://openalex.org/I119856527"]},{"id":"https://openalex.org/I4210091090","display_name":"Centre Hospitalier Universitaire Mohammed VI","ror":"https://ror.org/009nscf91","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210091090"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Nisrine Aboussair","raw_affiliation_strings":["Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakech, Morocco","Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakech, Morocco","institution_ids":["https://openalex.org/I119856527"]},{"raw_affiliation_string":"Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco","institution_ids":["https://openalex.org/I4210091090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031469274","display_name":"Majida Charif","orcid":"https://orcid.org/0000-0003-3301-4305","observed_orcids":["https://orcid.org/0000-0003-3301-4305"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210108110","display_name":"Mohamed I University","ror":"https://ror.org/01ejxf797","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210108110"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR","MA"],"is_corresponding":false,"raw_author_name":"Majida Charif","raw_affiliation_strings":["Laboratory of Physiology, Genetics and Ethnopharmacology, Faculty of Sciences, University Mohammed Premier, Oujda, Morocco","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Physiology, Genetics and Ethnopharmacology, Faculty of Sciences, University Mohammed Premier, Oujda, Morocco","institution_ids":["https://openalex.org/I4210108110"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073135543","display_name":"Ghita Amalou","orcid":"https://orcid.org/0000-0001-5553-4980","observed_orcids":["https://orcid.org/0000-0001-5553-4980"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210125507","display_name":"Chouaib Doukkali University","ror":"https://ror.org/036kgyt43","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210125507"]},{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR","MA"],"is_corresponding":false,"raw_author_name":"Ghita Amalou","raw_affiliation_strings":["Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco"],"raw_orcid":"https://orcid.org/0000-0001-5553-4980","affiliations":[{"raw_affiliation_string":"Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","institution_ids":["https://openalex.org/I4210151823"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"raw_affiliation_string":"Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco","institution_ids":["https://openalex.org/I4210125507"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036852209","display_name":"David Gouden\u00e8ge","orcid":"https://orcid.org/0000-0003-0738-2905","observed_orcids":["https://orcid.org/0000-0003-0738-2905"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"David Gouden\u00e8ge","raw_affiliation_strings":["D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","institution_ids":["https://openalex.org/I4210112910"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004813149","display_name":"Val\u00e9rie Desquiret\u2010Dumas","orcid":"https://orcid.org/0000-0001-9551-9400","observed_orcids":["https://orcid.org/0000-0001-9551-9400"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Desquiret-Dumas","raw_affiliation_strings":["D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","institution_ids":["https://openalex.org/I4210112910"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069138611","display_name":"C\u00e9line Bris","orcid":"https://orcid.org/0000-0003-2425-4446","observed_orcids":["https://orcid.org/0000-0003-2425-4446"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00e9line Bris","raw_affiliation_strings":["D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","institution_ids":["https://openalex.org/I4210112910"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024340748","display_name":"Najat Sifeddine","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Najat Sifeddine","raw_affiliation_strings":["Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020741820","display_name":"Halima Nahili","orcid":"https://orcid.org/0000-0003-4872-5476","observed_orcids":["https://orcid.org/0000-0003-4872-5476"]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Halima Nahili","raw_affiliation_strings":["Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000991404","display_name":"Meriem El Qabli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091090","display_name":"Centre Hospitalier Universitaire Mohammed VI","ror":"https://ror.org/009nscf91","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210091090"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Meriem Elqabli","raw_affiliation_strings":["Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco","institution_ids":["https://openalex.org/I4210091090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079433746","display_name":"Kenza Dafir","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I119856527","display_name":"Cadi Ayyad University","ror":"https://ror.org/04xf6nm78","country_code":"MA","type":"education","lineage":["https://openalex.org/I119856527"]},{"id":"https://openalex.org/I4210091090","display_name":"Centre Hospitalier Universitaire Mohammed VI","ror":"https://ror.org/009nscf91","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210091090"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Kenza Dafir","raw_affiliation_strings":["Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakech, Morocco","Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine and Pharmacy, Cadi Ayyad University, Marrakech, Morocco","institution_ids":["https://openalex.org/I119856527"]},{"raw_affiliation_string":"Genetic Department, Clinical Research Center, Mohammed VI University Hospital Center, Marrakech, Morocco","institution_ids":["https://openalex.org/I4210091090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113128876","display_name":"Mostafa Kandil","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210125507","display_name":"Chouaib Doukkali University","ror":"https://ror.org/036kgyt43","country_code":"MA","type":"education","lineage":["https://openalex.org/I4210125507"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Mostafa Kandil","raw_affiliation_strings":["Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Team of Anthropogenetics and Biotechnologies, Faculty of Sciences, Chouaib Doukkali University, Eljadida, Morocco","institution_ids":["https://openalex.org/I4210125507"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069738750","display_name":"Patrizia Amati\u2010Bonneau","orcid":"https://orcid.org/0000-0003-0222-2283","observed_orcids":["https://orcid.org/0000-0003-0222-2283"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Patrizia Amati-Bonneau","raw_affiliation_strings":["D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","institution_ids":["https://openalex.org/I4210112910"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015665453","display_name":"Vincent Procaccio","orcid":"https://orcid.org/0000-0002-1537-4684","observed_orcids":["https://orcid.org/0000-0002-1537-4684"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210112910","display_name":"Centre Hospitalier Universitaire d'Angers","ror":"https://ror.org/0250ngj72","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210112910"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Vincent Procaccio","raw_affiliation_strings":["D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de Biochimie et G\u00e9n\u00e9tique, CHU d'Angers, Angers, France","institution_ids":["https://openalex.org/I4210112910"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083624704","display_name":"Abdelhamid Barakat","orcid":"https://orcid.org/0000-0002-6239-0281","observed_orcids":["https://orcid.org/0000-0002-6239-0281"]},"institutions":[{"id":"https://openalex.org/I4210151823","display_name":"Institut Pasteur du Maroc","ror":"https://ror.org/04yb4j419","country_code":"MA","type":"facility","lineage":["https://openalex.org/I4210151823"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"Abdelhamid Barakat","raw_affiliation_strings":["Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco","institution_ids":["https://openalex.org/I4210151823"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5087178679","display_name":"Guy Lenaers","orcid":"https://orcid.org/0000-0003-2736-3349","observed_orcids":["https://orcid.org/0000-0003-2736-3349"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4387155524","display_name":"Mitochondrial and Cardiovascular Physiopathology","ror":"https://ror.org/03hqv2x85","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"id":"https://openalex.org/I49451733","display_name":"Universit\u00e9 d'Angers","ror":"https://ror.org/04yrqp957","country_code":"FR","type":"education","lineage":["https://openalex.org/I49451733"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Guy Lenaers","raw_affiliation_strings":["MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France. guy.lenaers@inserm.fr","MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d\u2019Angers, Angers, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d'Angers, Angers, France. guy.lenaers@inserm.fr","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]},{"raw_affiliation_string":"MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Universit\u00e9 d\u2019Angers, Angers, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5087178679"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387155524","https://openalex.org/I49451733"],"apc_list":{"value":3860,"currency":"USD","value_usd":3860},"apc_paid":null,"fwci":0.1429,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.34085338,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"34","issue":"11","first_page":"2138","last_page":"2139"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.6699000000953674,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.6699000000953674,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10250","display_name":"Glaucoma and retinal disorders","score":0.15189999341964722,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.03970000147819519,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/leber-hereditary-optic-neuropathy","display_name":"Leber's hereditary optic neuropathy","score":0.9929999709129333},{"id":"https://openalex.org/keywords/m-11778g-a-mutation","display_name":"m.11778G>A mutation","score":0.9169999957084656},{"id":"https://openalex.org/keywords/mitochondrial-genome","display_name":"mitochondrial genome","score":0.6359999775886536},{"id":"https://openalex.org/keywords/maternal-inheritance","display_name":"maternal inheritance","score":0.6549999713897705},{"id":"https://openalex.org/keywords/mitochondrial-dna-deletions","display_name":"mitochondrial DNA deletions","score":0.7979999780654907},{"id":"https://openalex.org/keywords/visual-field-defects","display_name":"visual field defects","score":0.5989999771118164}],"concepts":[{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.748724102973938},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.5582510232925415},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4399261474609375},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.381477415561676},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.24952083826065063},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.23420920968055725},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000352","descriptor_name":"Africa, Northern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004272","descriptor_name":"DNA, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D029242","descriptor_name":"Optic Atrophy, Hereditary, Leber","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1038/s41433-019-0755-x","doi":"https://doi.org/10.1038/s41433-019-0755-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41433-019-0755-x","pdf_url":"https://www.nature.com/articles/s41433-019-0755-x.pdf","source":{"id":"https://openalex.org/S167047176","display_name":"Eye","issn_l":"0078-5334","issn":["0078-5334","0950-222X","1476-5454"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eye","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:7447170","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC7784990","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:31896800","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31896800","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eye (London, England)","raw_type":"Letter"},{"id":"pmh:oai:pubmedcentral.nih.gov:7784990","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC7784990/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eye (Lond)","raw_type":"Text"},{"id":"pmh:oai:HAL:hal-02942813v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-02942813","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Eye, 2020, &#x27E8;10.1038/s41433-019-0755-x&#x27E9;","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1038/s41433-019-0755-x","doi":"https://doi.org/10.1038/s41433-019-0755-x","is_oa":true,"landing_page_url":"https://doi.org/10.1038/s41433-019-0755-x","pdf_url":"https://www.nature.com/articles/s41433-019-0755-x.pdf","source":{"id":"https://openalex.org/S167047176","display_name":"Eye","issn_l":"0078-5334","issn":["0078-5334","0950-222X","1476-5454"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eye","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2997364368.pdf","grobid_xml":"https://content.openalex.org/works/W2997364368.grobid-xml"},"referenced_works_count":6,"referenced_works":["https://openalex.org/W1966986920","https://openalex.org/W1987571741","https://openalex.org/W2048965827","https://openalex.org/W2099256396","https://openalex.org/W2898970691","https://openalex.org/W2911543928"],"related_works":["https://openalex.org/W3021513604","https://openalex.org/W3031286695","https://openalex.org/W2020415093","https://openalex.org/W2401470705","https://openalex.org/W2531115071","https://openalex.org/W2580598742","https://openalex.org/W161824026","https://openalex.org/W3104082091","https://openalex.org/W3122271026","https://openalex.org/W1271705100"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":2}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2020-01-10T00:00:00"}
