{"id":"https://openalex.org/W2011999843","doi":"https://doi.org/10.1016/s0035-3787(07)90699-2","title":"M - 3 Identification d\u2019une nouvelle forme d\u2019Ataxie Spastique autosomique r\u00e9cessive","display_name":"M - 3 Identification d\u2019une nouvelle forme d\u2019Ataxie Spastique autosomique r\u00e9cessive","publication_year":2007,"publication_date":"2007-04-01","ids":{"openalex":"https://openalex.org/W2011999843","doi":"https://doi.org/10.1016/s0035-3787(07)90699-2","mag":"2011999843"},"language":"fr","primary_location":{"id":"doi:10.1016/s0035-3787(07)90699-2","doi":"https://doi.org/10.1016/s0035-3787(07)90699-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0035-3787(07)90699-2","pdf_url":null,"source":{"id":"https://openalex.org/S124451323","display_name":"Revue Neurologique","issn_l":"0035-3787","issn":["0035-3787","2213-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revue Neurologique","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5090498228","display_name":"Na\u00efma Bouslam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"N. Bouslam","raw_affiliation_strings":["INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc","institution_ids":[]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086162355","display_name":"Ahmed Bouhouche","orcid":"https://orcid.org/0000-0001-5279-8649","observed_orcids":["https://orcid.org/0000-0001-5279-8649"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Bouhouche","raw_affiliation_strings":["Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111540255","display_name":"Ali Benomar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. Benomar","raw_affiliation_strings":["Centre M\u00e9dical des essais cliniques et \u00e9tude \u00e9pid\u00e9miologique (CRECET), \u00e9cole m\u00e9dicale, Rabat, Maroc","Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre M\u00e9dical des essais cliniques et \u00e9tude \u00e9pid\u00e9miologique (CRECET), \u00e9cole m\u00e9dicale, Rabat, Maroc","institution_ids":[]},{"raw_affiliation_string":"Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006271840","display_name":"Sylvain Hanein","orcid":"https://orcid.org/0000-0001-5817-6330","observed_orcids":["https://orcid.org/0000-0001-5817-6330"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"S. Hanein","raw_affiliation_strings":["INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023361389","display_name":"Stephan Klebe","orcid":"https://orcid.org/0000-0003-3363-4301","observed_orcids":["https://orcid.org/0000-0003-3363-4301"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"S. Klebe","raw_affiliation_strings":["INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069470534","display_name":"Hamid Azzedine","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"H. Azzedine","raw_affiliation_strings":["INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111898153","display_name":"Silvia Di Giandomenico","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Di Giandomenico","raw_affiliation_strings":["Unit\u00e9 de M\u00e9decine mol\u00e9culaire, IRCCS-Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de M\u00e9decine mol\u00e9culaire, IRCCS-Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065730986","display_name":"Anne Boland","orcid":"https://orcid.org/0000-0001-8789-5676","observed_orcids":["https://orcid.org/0000-0001-8789-5676"]},"institutions":[{"id":"https://openalex.org/I4210085925","display_name":"Centre National de Recherche en G\u00e9nomique Humaine","ror":"https://ror.org/004yvsb77","country_code":"FR","type":"facility","lineage":["https://openalex.org/I2738703131","https://openalex.org/I4210085925","https://openalex.org/I4210113668","https://openalex.org/I4405259120"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Boland-Aug\u00e9","raw_affiliation_strings":["Centre National de g\u00e9notypage (CNG), Evry, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre National de g\u00e9notypage (CNG), Evry, France","institution_ids":["https://openalex.org/I4210085925"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068237948","display_name":"Filippo Maria Santorelli","orcid":"https://orcid.org/0000-0002-1359-9062","observed_orcids":["https://orcid.org/0000-0002-1359-9062"]},"institutions":[{"id":"https://openalex.org/I4210123352","display_name":"Bambino Ges\u00f9 Children's Hospital","ror":"https://ror.org/02sy42d13","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210123352","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"F.M. Santorelli","raw_affiliation_strings":["Unit\u00e9 de M\u00e9decine mol\u00e9culaire, IRCCS-Bambino Ges\u00f9 Children's Hospital, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e9 de M\u00e9decine mol\u00e9culaire, IRCCS-Bambino Ges\u00f9 Children's Hospital, Rome, Italy","institution_ids":["https://openalex.org/I4210123352"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027293126","display_name":"Alexandra D\u00fcrr","orcid":"https://orcid.org/0000-0002-8921-7104","observed_orcids":["https://orcid.org/0000-0002-8921-7104"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"A. Durr","raw_affiliation_strings":["AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"A. Brice","raw_affiliation_strings":["AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004871974","display_name":"Mounir Yahyaoui","orcid":"https://orcid.org/0000-0001-5024-6592","observed_orcids":["https://orcid.org/0000-0001-5024-6592"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Yahyaoui","raw_affiliation_strings":["Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie B et Neurog\u00e9n\u00e9tique, H\u00f4pital des sp\u00e9cialit\u00e9s, Rabat, Maroc","institution_ids":[]}]},{"author_position":"last","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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210121705","display_name":"Piti\u00e9-Salp\u00eatri\u00e8re Hospital","ror":"https://ror.org/02mh9a093","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"id":"https://openalex.org/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":"G. Stevanin","raw_affiliation_strings":["AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"AP-HP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique et Cytog\u00e9n\u00e9tique, Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"INSERM, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re H\u00f4pital, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705"]},{"raw_affiliation_string":"Universit\u00e9 de Pierre et Marie Curie \u2014 Paris 6, UMR679, Institut F\u00e9d\u00e9rative de recherche en Neurosciences (IFR70), Piti\u00e9 Salp\u00eatri\u00e8re Hospital, Paris, France","institution_ids":["https://openalex.org/I4210121705","https://openalex.org/I4405264447"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3620,"currency":"USD","value_usd":3620},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.11064957,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"163","issue":"4","first_page":"111","last_page":"111"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9169999957084656,"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"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9169999957084656,"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":0.07540000230073929,"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/T10919","display_name":"Neurological disorders and treatments","score":0.0005000000237487257,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/spinocerebellar-degeneration","display_name":"spinocerebellar degeneration","score":0.8399999737739563},{"id":"https://openalex.org/keywords/autosomal-recessive-cerebellar-ataxia","display_name":"autosomal recessive cerebellar ataxia","score":0.8560000061988831},{"id":"https://openalex.org/keywords/linkage-mapping","display_name":"linkage mapping","score":0.6589999794960022},{"id":"https://openalex.org/keywords/consanguineous-family","display_name":"consanguineous family","score":0.7770000100135803},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.6729999780654907},{"id":"https://openalex.org/keywords/candidate-gene-exclusion","display_name":"candidate gene exclusion","score":0.5509999990463257},{"id":"https://openalex.org/keywords/moroccan-families","display_name":"Moroccan families","score":0.4970000088214874},{"id":"https://openalex.org/keywords/homozygosity-mapping","display_name":"homozygosity mapping","score":0.6340000033378601},{"id":"https://openalex.org/keywords/lod-score","display_name":"lod score","score":0.6129999756813049},{"id":"https://openalex.org/keywords/spastic-paraplegia","display_name":"spastic paraplegia","score":0.6970000267028809},{"id":"https://openalex.org/keywords/pyramidal-signs","display_name":"pyramidal signs","score":0.8389999866485596},{"id":"https://openalex.org/keywords/arca","display_name":"Arca","score":0.32600000500679016},{"id":"https://openalex.org/keywords/arsacs","display_name":"ARSACS","score":0.9409999847412109}],"concepts":[{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.35235345363616943},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.33695870637893677},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.33551669120788574},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2794587016105652}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/s0035-3787(07)90699-2","doi":"https://doi.org/10.1016/s0035-3787(07)90699-2","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0035-3787(07)90699-2","pdf_url":null,"source":{"id":"https://openalex.org/S124451323","display_name":"Revue Neurologique","issn_l":"0035-3787","issn":["0035-3787","2213-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Revue Neurologique","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W6983462331","https://openalex.org/W633123554","https://openalex.org/W658114118","https://openalex.org/W7000535137","https://openalex.org/W390921731","https://openalex.org/W7038381184","https://openalex.org/W2052101816","https://openalex.org/W1969750905","https://openalex.org/W2007307471","https://openalex.org/W2979714827"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-06-24T00:00:00"}
