{"id":"https://openalex.org/W2043713952","doi":"https://doi.org/10.1073/pnas.1006190107","title":"Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis","display_name":"Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis","publication_year":2010,"publication_date":"2010-06-10","ids":{"openalex":"https://openalex.org/W2043713952","doi":"https://doi.org/10.1073/pnas.1006190107","mag":"2043713952","pmid":"https://pubmed.ncbi.nlm.nih.gov/20538972","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2900698"},"language":"en","primary_location":{"id":"doi:10.1073/pnas.1006190107","doi":"https://doi.org/10.1073/pnas.1006190107","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.1006190107","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},"volume":null,"type":"letter","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2900698","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004501662","display_name":"St\u00e9phanie Millecamps","orcid":"https://orcid.org/0000-0002-0745-6735","observed_orcids":["https://orcid.org/0000-0002-0745-6735"]},"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/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"St\u00e9phanie Millecamps","raw_affiliation_strings":["Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065540612","display_name":"Sandra da Barroca","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sandra Da Barroca","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103431927","display_name":"C\u00e9cile Cazeneuve","orcid":"https://orcid.org/0000-0002-5195-9348","observed_orcids":["https://orcid.org/0000-0002-5195-9348"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"C\u00e9cile Cazeneuve","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105783830","display_name":"Fran\u00e7ois Salachas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Fran\u00e7ois Salachas","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110850321","display_name":"Pierre\u2010Fran\u00e7ois Pradat","orcid":"https://orcid.org/0000-0003-1600-413X","observed_orcids":["https://orcid.org/0000-0003-1600-413X"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre-Fran\u00e7ois Pradat","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011904813","display_name":"V\u00e9ronique Danel-Brunaud","orcid":"https://orcid.org/0009-0000-8290-270X","observed_orcids":["https://orcid.org/0009-0000-8290-270X"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210101212","display_name":"H\u00f4pital Roger Salengro","ror":"https://ror.org/0165ax130","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210101212"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"V\u00e9ronique Danel-Brunaud","raw_affiliation_strings":["Service de Neurologie et Pathologie du Mouvement, H\u00f4pital Roger Salengro, Centre Hospitalier Regional Universitaire, 59037 Lille cedex, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie et Pathologie du Mouvement, H\u00f4pital Roger Salengro, Centre Hospitalier Regional Universitaire, 59037 Lille cedex, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210101212"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111981550","display_name":"N. Vandenberghe","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210100596","display_name":"Hospices Civils de Lyon","ror":"https://ror.org/01502ca60","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596"]},{"id":"https://openalex.org/I4210105768","display_name":"H\u00f4pital Pierre Wertheimer","ror":"https://ror.org/01q046q46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596","https://openalex.org/I4210105768"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nadia Vandenberghe","raw_affiliation_strings":["Hospices Civils de Lyon, H\u00f4pital Neurologique Pierre Wertheimer, 69500 Bron, France; and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospices Civils de Lyon, H\u00f4pital Neurologique Pierre Wertheimer, 69500 Bron, France; and","institution_ids":["https://openalex.org/I4210100596","https://openalex.org/I4210105768"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105690945","display_name":"Lucette Lacomblez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Lucette Lacomblez","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016990492","display_name":"Nadine Le Forestier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nadine Le Forestier","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006151659","display_name":"Ga\u00eblle Bruneteau","orcid":"https://orcid.org/0000-0002-1905-7985","observed_orcids":["https://orcid.org/0000-0002-1905-7985"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Ga\u00eblle Bruneteau","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056671297","display_name":"William Camu","orcid":"https://orcid.org/0000-0003-1287-7355","observed_orcids":["https://orcid.org/0000-0003-1287-7355"]},"institutions":[{"id":"https://openalex.org/I4210112060","display_name":"H\u00f4pital Gui de Chauliac","ror":"https://ror.org/02w35z347","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210093292","https://openalex.org/I4210112060"]},{"id":"https://openalex.org/I4387153574","display_name":"Universit\u00e9 Montpellier 1","ror":"https://ror.org/0227fbx80","country_code":"FR","type":"education","lineage":["https://openalex.org/I19894307","https://openalex.org/I4387153574"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"William Camu","raw_affiliation_strings":["Service de Neurologie, H\u00f4pital Guy de Chauliac, Universit\u00e9 de Montpellier I, 34295 Montpellier cedex 05, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, H\u00f4pital Guy de Chauliac, Universit\u00e9 de Montpellier I, 34295 Montpellier cedex 05, France","institution_ids":["https://openalex.org/I4210112060","https://openalex.org/I4387153574"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"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/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057953137","display_name":"Vincent Meininger","orcid":"https://orcid.org/0000-0002-6180-7970","observed_orcids":["https://orcid.org/0000-0002-6180-7970"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Vincent Meininger","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares pour la Scl\u00e9rose Lat\u00e9rale Amyotrophique, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5023778362","display_name":"\u00c9ric Leguern","orcid":"https://orcid.org/0000-0003-0013-9646","observed_orcids":["https://orcid.org/0000-0003-0013-9646"]},"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/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4405264447","display_name":"Universit\u00e9 Pierre-et-Marie-Curie","ror":"https://ror.org/01yvrd251","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081","https://openalex.org/I4405264447"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Eric LeGuern","raw_affiliation_strings":["Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique H\u00f4pitaux de Paris, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Unit\u00e9 Fonctionnelle de neurog\u00e9n\u00e9tique mol\u00e9culaire et cellulaire, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Centre de Recherche de l'Institut du Cerveau et de la Moelle Epini\u00e8re, Institut National de la Sante et de la Recherche Medicale Unit\u00e9 Mixte de Recherche S975, Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 7225, Universit\u00e9 Pierre et Marie Curie-Paris 6, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France;","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":12,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":21,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":"107","issue":"26","first_page":"E107; author reply E108","last_page":"E107; author reply E108"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.025100000202655792,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"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/T10086","display_name":"Alzheimer's disease research and treatments","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/d-amino-acid-oxidase","display_name":"D-amino acid oxidase","score":0.9929999709129333},{"id":"https://openalex.org/keywords/familial-amyotrophic-lateral-sclerosis","display_name":"familial ALS","score":0.9660000205039978},{"id":"https://openalex.org/keywords/enzyme-activity","display_name":"enzyme activity","score":0.36899998784065247},{"id":"https://openalex.org/keywords/motor-neuron-disease","display_name":"motor neuron disease","score":0.49799999594688416}],"concepts":[{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.9543987512588501},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.44072359800338745},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.4394236207008362},{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.41770613193511963},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3921358585357666},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.38797518610954285},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3653346300125122},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.3284206986427307},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.315803587436676},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1897551417350769},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.13652032613754272},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.11539113521575928},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.10582008957862854}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003605","descriptor_name":"D-Amino-Acid Oxidase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","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":"D013045","descriptor_name":"Species Specificity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017124","descriptor_name":"Conserved Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017386","descriptor_name":"Sequence Homology, Amino Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1073/pnas.1006190107","doi":"https://doi.org/10.1073/pnas.1006190107","is_oa":false,"landing_page_url":"https://doi.org/10.1073/pnas.1006190107","pdf_url":null,"source":{"id":"https://openalex.org/S125754415","display_name":"Proceedings of the National Academy of Sciences","issn_l":"0027-8424","issn":["0027-8424","1091-6490"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320052","host_organization_name":"National Academy of Sciences","host_organization_lineage":["https://openalex.org/P4310320052"],"host_organization_lineage_names":["National Academy of Sciences"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Proceedings of the National Academy of Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2900698","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2900698","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":"Proc Natl Acad Sci U S A","raw_type":"Text"},{"id":"pmid:20538972","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20538972","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":"Proceedings of the National Academy of Sciences of the United States of America","raw_type":"Comment"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2900698","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2900698","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":"Proc Natl Acad Sci U S A","raw_type":"Text"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W2001615993","https://openalex.org/W2157108110"],"related_works":["https://openalex.org/W2129316203","https://openalex.org/W2001615993","https://openalex.org/W2566234828","https://openalex.org/W2774253640","https://openalex.org/W4251299641","https://openalex.org/W2891879880","https://openalex.org/W1988147141","https://openalex.org/W4319915860","https://openalex.org/W2790965678","https://openalex.org/W4389078133"],"abstract_inverted_index":{"Mitchell":[0],"et":[1],"al.":[2],"(1)":[3],"recently":[4],"reported":[5],"a":[6,21,30,126,240],"single":[7],"heterozygous":[8],"variant":[9,55,129],"(R199W)":[10],"in":[11,20,57,63,69,80,120,130,146,172,177,196,247,270,276],"exon":[12],"7":[13],"of":[14,38,53,59,125,139,163,200,232],"D":[15],"amino":[16],"oxidase":[17],"(DAO)":[18],"gene":[19],"family":[22],"with":[23,98,184],"amyotrophic":[24,133],"lateral":[25,134],"sclerosis":[26,135],"(ALS)":[27],"that":[28,108],"showed":[29,107],"probable":[31,180],"linkage":[32],"to":[33,112,142,151],"the":[34,123,157,214,227,244],"12q":[35],"chromosome":[36],"(Zmax":[37],"2.7":[39],"for":[40,46,84,243],"d12s1646":[41],"by":[42,48,226],"bipoint":[43],"and":[44,73,87,116,165,191,198,213,268],"1.9":[45],"d12S330":[47],"multipoint":[49],"analysis)":[50],"(1).":[51],"Characteristics":[52],"this":[54,64],"were":[56,224],"favor":[58],"its":[60],"causative":[61],"role":[62],"family:":[65],"it":[66,77,88],"was":[67,78,89,194,208,218],"found":[68],"three":[70],"affected":[71],"members":[72],"one":[74,187],"obligate":[75],"carrier,":[76],"absent":[79],"780":[81],"controls":[82],"matched":[83],"ethnic":[85],"background,":[86],"relatively":[90],"well-conserved":[91],"among":[92],"species.":[93],"Moreover,":[94],"cellular":[95,118],"studies":[96],"performed":[97],"lentiviral":[99],"vectors":[100],"expressing":[101],"mutant":[102],"or":[103,181],"wild-type":[104],"DAO":[105,110,145,164],"protein":[106,257,259,265],"R199W":[109],"led":[111],"ubiquitin":[113],"aggregate":[114],"formation":[115],"decreased":[117],"viability":[119],"vitro.":[121],"Overall,":[122],"identification":[124],"second":[127],"rare":[128],"another":[131],"familial":[132],"(FALS)":[136],"would":[137],"be":[138],"great":[140],"interest":[141],"firmly":[143],"incriminate":[144],"ALS.":[147],"In":[148],"an":[149],"effort":[150],"strengthen":[152],"these":[153,201,277],"data,":[154],"we":[155],"sequenced":[156],"10":[158],"coding":[159],"exons":[160],"(exons":[161],"2\u201311)":[162],"exon\u2013intron":[166],"junctions":[167],"(Ensembl":[168],"reference":[169],"sequence":[170],"ENS0110887)":[171],"126":[173],"unrelated":[174],"patients":[175,278],"living":[176],"France":[178],"presenting":[179],"definite":[182],"ALS":[183],"at":[185],"least":[186],"ALS-affected":[188],"relative.":[189],"Spinal":[190],"bulbar":[192],"onset":[193,207],"noticed":[195],"80.2%":[197],"29.8%":[199],"patients,":[202],"respectively.":[203],"The":[204],"mean":[205,215],"disease":[206,216],"58":[209],"\u00b1":[210,220],"9":[211],"y,":[212],"duration":[217],"3":[219],"2":[221],"y.":[222],"Protocols":[223],"approved":[225],"Medical":[228],"Research":[229],"Ethics":[230],"Committee":[231],"Assistance":[233],"Publique-Hopitaux":[234],"de":[235],"Paris.":[236],"All":[237],"participants":[238],"signed":[239],"consent":[241],"form":[242],"research.":[245],"Mutations":[246],"copper/zinc":[248],"superoxide":[249],"dismutase":[250],"(SOD1),":[251],"angiogenin":[252],"(ANG),":[253],"vesicle":[254],"associated":[255,258],"membrane":[256],"B":[260],"(VAPB),":[261],"TAR":[262],"DNA":[263],"binding":[264],"43":[266],"(TARDBP),":[267],"fused":[269],"sarcoma":[271],"(FUS)":[272],"have":[273],"been":[274],"excluded":[275],"(2).":[279]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}