{"id":"https://openalex.org/W2159284401","doi":"https://doi.org/10.1212/wnl.0000000000000778","title":"Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders","display_name":"Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders","publication_year":2014,"publication_date":"2014-08-07","ids":{"openalex":"https://openalex.org/W2159284401","doi":"https://doi.org/10.1212/wnl.0000000000000778","mag":"2159284401","pmid":"https://pubmed.ncbi.nlm.nih.gov/25098532","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4162303"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.0000000000000778","doi":"https://doi.org/10.1212/wnl.0000000000000778","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000000778","pdf_url":"https://n.neurology.org/content/neurology/83/11/990.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://n.neurology.org/content/neurology/83/11/990.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5022091308","display_name":"Serena Lattante","orcid":"https://orcid.org/0000-0003-2891-0340","observed_orcids":["https://orcid.org/0000-0003-2891-0340"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Serena Lattante","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006492716","display_name":"Giovanni St\u00e9vanin","orcid":"https://orcid.org/0000-0001-9368-8657","observed_orcids":["https://orcid.org/0000-0001-9368-8657","https://orcid.org/0000-0003-2770-8407"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Giovanni Stevanin","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056006395","display_name":"Sophie Rivaud-P\u00e9choux","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Sophie Rivaud-P\u00e9choux","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018464655","display_name":"Carine Moigneu","orcid":"https://orcid.org/0000-0002-4508-3108","observed_orcids":["https://orcid.org/0000-0002-4508-3108"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Carine Moigneu","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109698979","display_name":"Agn\u00e8s Camuzat","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Agn\u00e8s Camuzat","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","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/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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Sandra Da Barroca","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074856368","display_name":"Emeline Mundwiller","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Emeline Mundwiller","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046526830","display_name":"Philippe Couarch","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Philippe Couarch","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105783830","display_name":"Fran\u00e7ois Salachas","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Fran\u00e7ois Salachas","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077897163","display_name":"Didier Hannequin","orcid":"https://orcid.org/0000-0003-2662-0999","observed_orcids":["https://orcid.org/0000-0003-2662-0999"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Didier Hannequin","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","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/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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Vincent Meininger","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055524428","display_name":"Florence Pasquier","orcid":"https://orcid.org/0000-0001-9880-9788","observed_orcids":["https://orcid.org/0000-0001-9880-9788"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Florence Pasquier","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039614344","display_name":"Danielle Seilhean","orcid":"https://orcid.org/0000-0003-3498-4602","observed_orcids":["https://orcid.org/0000-0003-3498-4602"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Danielle Seilhean","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107835089","display_name":"Philippe Couratier","orcid":"https://orcid.org/0000-0001-9562-856X","observed_orcids":["https://orcid.org/0000-0001-9562-856X"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Philippe Couratier","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"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/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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"V\u00e9ronique Danel-Brunaud","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Anne-Marie Bonnet","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Anne-Marie Bonnet","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026172432","display_name":"Christine Tranchant","orcid":"https://orcid.org/0000-0002-2895-1292","observed_orcids":["https://orcid.org/0000-0002-2895-1292"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Christine Tranchant","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042566383","display_name":"Isabelle Le Ber","orcid":"https://orcid.org/0000-0002-2508-5181","observed_orcids":["https://orcid.org/0000-0002-2508-5181"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Isabelle Le Ber","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091192587","display_name":"Edor Kabashi","orcid":"https://orcid.org/0000-0003-4118-251X","observed_orcids":["https://orcid.org/0000-0003-4118-251X"]},"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/I159885104","display_name":"\u00c9cole Pratique des Hautes \u00c9tudes","ror":"https://ror.org/046b3cj80","country_code":"FR","type":"education","lineage":["https://openalex.org/I159885104","https://openalex.org/I2746051580"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I4210134562","display_name":"HESAM Universit\u00e9","ror":"https://ror.org/042949r55","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210134562"]},{"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":"Edor Kabashi","raw_affiliation_strings":["From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Universit\u00e9, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurog\u00e9n\u00e9tique, ICM (G.S.), H\u00e9Sam Universit\u00e9, GHU Piti\u00e9-Salp\u00eatri\u00e8re, F-75013, Paris; F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux, Centre de r\u00e9f\u00e9rence maladies rares SLA (F.S., V.M.), D\u00e9partement de Neuropathologie (D.S.),","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I159885104","https://openalex.org/I39804081","https://openalex.org/I4210134562","https://openalex.org/I4210152724","https://openalex.org/I4405264447"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":6.735,"has_fulltext":true,"cited_by_count":85,"citation_normalized_percentile":{"value":0.97255041,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"83","issue":"11","first_page":"990","last_page":"995"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":0.9800000190734863,"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":0.9800000190734863,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.01850000023841858,"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"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"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/ataxin-2","display_name":"ATXN2","score":0.9980000257492065},{"id":"https://openalex.org/keywords/polyglutamine-expansion","display_name":"polyglutamine expansion","score":0.953000009059906},{"id":"https://openalex.org/keywords/cag-repeat-length","display_name":"CAG repeat length","score":0.796999990940094},{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9890000224113464},{"id":"https://openalex.org/keywords/frontotemporal-dementia","display_name":"frontotemporal dementia","score":0.9959999918937683},{"id":"https://openalex.org/keywords/progressive-supranuclear-palsy","display_name":"progressive supranuclear palsy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/c9orf72-repeat-expansion","display_name":"C9orf72 repeat expansion","score":0.9419999718666077},{"id":"https://openalex.org/keywords/modifier-genes","display_name":"genetic modifiers","score":0.8550000190734863},{"id":"https://openalex.org/keywords/neurodegenerative-diseases","display_name":"neurodegenerative diseases","score":0.7630000114440918},{"id":"https://openalex.org/keywords/familial-amyotrophic-lateral-sclerosis","display_name":"familial ALS","score":0.5960000157356262},{"id":"https://openalex.org/keywords/sporadic-als","display_name":"sporadic ALS","score":0.8339999914169312}],"concepts":[{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.9717194437980652},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.8971948623657227},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.8849674463272095},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.7174234390258789},{"id":"https://openalex.org/C2776477761","wikidata":"https://www.wikidata.org/wiki/Q945930","display_name":"Progressive supranuclear palsy","level":3,"score":0.6292808055877686},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.58447265625},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4342368245124817},{"id":"https://openalex.org/C2776939681","wikidata":"https://www.wikidata.org/wiki/Q18579","display_name":"Frontotemporal lobar degeneration","level":5,"score":0.4228765368461609},{"id":"https://openalex.org/C2779483572","wikidata":"https://www.wikidata.org/wiki/Q83030","display_name":"Dementia","level":3,"score":0.3790726363658905},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.36057764291763306},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3267388939857483},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3093626797199249},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.30515187978744507},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19020745158195496},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.11610126495361328}],"mesh":[{"descriptor_ui":"D000067528","descriptor_name":"Ataxins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000073885","descriptor_name":"C9orf72 Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000690","descriptor_name":"Amyotrophic Lateral Sclerosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005602","descriptor_name":"France","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":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010455","descriptor_name":"Peptides","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011506","descriptor_name":"Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013494","descriptor_name":"Supranuclear Palsy, Progressive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015331","descriptor_name":"Cohort Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D042622","descriptor_name":"DNA Repeat Expansion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057180","descriptor_name":"Frontotemporal Dementia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":6,"locations":[{"id":"doi:10.1212/wnl.0000000000000778","doi":"https://doi.org/10.1212/wnl.0000000000000778","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000000778","pdf_url":"https://n.neurology.org/content/neurology/83/11/990.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:3539227","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4162303","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":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:4162303","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4162303","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":"Neurology","raw_type":"Text"},{"id":"pmid:25098532","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25098532","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":"Neurology","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-01205502v1","doi":null,"is_oa":false,"landing_page_url":"https://unilim.hal.science/hal-01205502","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":"Neurology, 2014, 83 (11), pp.990-5. &#x27E8;10.1212/WNL.0000000000000778&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:iris.unisalento.it:11587/499148","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11587/499148","pdf_url":null,"source":{"id":"https://openalex.org/S7407055257","display_name":"AIRUS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1212/wnl.0000000000000778","doi":"https://doi.org/10.1212/wnl.0000000000000778","is_oa":true,"landing_page_url":"https://doi.org/10.1212/wnl.0000000000000778","pdf_url":"https://n.neurology.org/content/neurology/83/11/990.full.pdf","source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320323920","display_name":"Association pour la Recherche sur la Scl\u00e9rose Lat\u00e9rale Amyotrophique et autres Maladies du Motoneurone","ror":"https://ror.org/054mxgp74"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2159284401.pdf","grobid_xml":"https://content.openalex.org/works/W2159284401.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W1012257715","https://openalex.org/W1581113100","https://openalex.org/W1690143157","https://openalex.org/W1971047357","https://openalex.org/W1974008939","https://openalex.org/W1976288529","https://openalex.org/W1994276796","https://openalex.org/W2006279007","https://openalex.org/W2012093225","https://openalex.org/W2015805588","https://openalex.org/W2016332933","https://openalex.org/W2018911077","https://openalex.org/W2028582698","https://openalex.org/W2038514369","https://openalex.org/W2056105510","https://openalex.org/W2065253698","https://openalex.org/W2068096553","https://openalex.org/W2070043048","https://openalex.org/W2071732376","https://openalex.org/W2074212776","https://openalex.org/W2081974513","https://openalex.org/W2089632640","https://openalex.org/W2093390648","https://openalex.org/W2101738226","https://openalex.org/W2102813617","https://openalex.org/W2107446322","https://openalex.org/W2112896579","https://openalex.org/W2122047581","https://openalex.org/W2128030851","https://openalex.org/W2130034267","https://openalex.org/W2134965790","https://openalex.org/W2136557657","https://openalex.org/W2138543778","https://openalex.org/W2149122401","https://openalex.org/W2151616372","https://openalex.org/W2153908218","https://openalex.org/W2157108110","https://openalex.org/W2159194958","https://openalex.org/W2161938104"],"related_works":["https://openalex.org/W2079057165","https://openalex.org/W2765240614","https://openalex.org/W2107446322","https://openalex.org/W2609211255","https://openalex.org/W2089632640","https://openalex.org/W2068096553","https://openalex.org/W2768809925","https://openalex.org/W2015805588","https://openalex.org/W2190513575","https://openalex.org/W4391542246"],"abstract_inverted_index":{"OBJECTIVE:":[0],"The":[1],"aim":[2],"of":[3,11,19,57,81,128,134,149,153,206,213,222],"this":[4],"study":[5],"was":[6],"to":[7,35,173,176,219],"establish":[8],"the":[9,48,82,114,126,140,147,177,207,211,220],"frequency":[10],"ATXN2":[12,38,70,135,159,162,180,197],"polyglutamine":[13],"(polyQ)":[14],"expansion":[15,84,131],"in":[16,45,76,104,117,132,139,165,210],"large":[17,55],"cohorts":[18],"patients":[20,46,59,105,118,154,166],"with":[21,98,106,119,167],"amyotrophic":[22],"lateral":[23],"sclerosis":[24],"(ALS),":[25],"frontotemporal":[26],"dementia":[27],"(FTD),":[28],"and":[29,34,66,89,110,142,169,191,228],"progressive":[30],"supranuclear":[31],"palsy":[32],"(PSP),":[33],"evaluate":[36],"whether":[37],"could":[39,200],"act":[40,201],"as":[41,202],"a":[42,54,95,185,203,214],"modifier":[43,205],"gene":[44],"carrying":[47],"C9orf72":[49,83,130,150,215],"expansion.":[50],"METHODS:":[51],"We":[52,74,93],"screened":[53],"cohort":[56,78,148],"French":[58],"(1,144":[60],"ALS,":[61,86],"203":[62],"FTD,":[63,88],"168":[64],"FTD-ALS,":[65],"109":[67],"PSP)":[68],"for":[69,113,189],"CAG":[71],"repeat":[72,100,160,163,182,216],"length.":[73,161],"included":[75],"our":[77],"322":[79],"carriers":[80],"(202":[85],"63":[87],"57":[90],"FTD-ALS).":[91],"RESULTS:":[92],"found":[94,125,172],"significant":[96],"association":[97],"intermediate":[99,158],"size":[101],"(\u226529":[102],"CAG)":[103],"ALS":[107,144,190],"(both":[108],"familial":[109,120,143],"sporadic)":[111],"and,":[112],"first":[115],"time,":[116],"FTD-ALS.":[121,192],"Of":[122],"interest,":[123],"we":[124,194],"co-occurrence":[127],"pathogenic":[129],"23.2%":[133],"intermediate-repeat":[136],"carriers,":[137,151],"all":[138],"FTD-ALS":[141],"subgroups.":[145],"In":[146],"3.1%":[152],"also":[155],"carried":[156],"an":[157],"lengths":[164],"PSP":[168],"FTD":[170,208,227],"were":[171],"be":[174],"similar":[175],"controls.":[178],"CONCLUSIONS:":[179],"intermediary":[181],"length":[183],"is":[184],"strong":[186,204],"risk":[187],"factor":[188],"Furthermore,":[193],"propose":[195],"that":[196],"polyQ":[198],"expansions":[199],"phenotype":[209],"presence":[212],"expansion,":[217],"leading":[218],"development":[221],"clinical":[223],"signs":[224],"featuring":[225],"both":[226],"ALS.":[229]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":9},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":8},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":11},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
