{"id":"https://openalex.org/W2044416632","doi":"https://doi.org/10.1016/j.neurol.2012.01.040","title":"Ataxie c\u00e9r\u00e9belleuse autosomique r\u00e9cessive avec apraxie oculomotrice de type 2 : aspects ph\u00e9notypiques, g\u00e9notypiques et biologiques de quatre nouvelles mutations du g\u00e8ne de la s\u00e9nataxine","display_name":"Ataxie c\u00e9r\u00e9belleuse autosomique r\u00e9cessive avec apraxie oculomotrice de type 2 : aspects ph\u00e9notypiques, g\u00e9notypiques et biologiques de quatre nouvelles mutations du g\u00e8ne de la s\u00e9nataxine","publication_year":2012,"publication_date":"2012-03-17","ids":{"openalex":"https://openalex.org/W2044416632","doi":"https://doi.org/10.1016/j.neurol.2012.01.040","mag":"2044416632"},"language":"fr","primary_location":{"id":"doi:10.1016/j.neurol.2012.01.040","doi":"https://doi.org/10.1016/j.neurol.2012.01.040","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neurol.2012.01.040","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/A5113526658","display_name":"M\u2019zahem Abderrahim","orcid":"https://orcid.org/0000-0001-6378-9422","observed_orcids":["https://orcid.org/0000-0001-6378-9422"]},"institutions":[{"id":"https://openalex.org/I4210091902","display_name":"Centre Hospitalo-Universitaire Dr Benbadis Constantine","ror":"https://ror.org/00edpzw35","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210091902"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Abderrahim M\u2019Zahem","raw_affiliation_strings":["Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I4210091902"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086280488","display_name":"Naima Taghane","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091902","display_name":"Centre Hospitalo-Universitaire Dr Benbadis Constantine","ror":"https://ror.org/00edpzw35","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210091902"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Naima Taghane","raw_affiliation_strings":["Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I4210091902"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018395977","display_name":"Aboubakarsedik Fekraoui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091902","display_name":"Centre Hospitalo-Universitaire Dr Benbadis Constantine","ror":"https://ror.org/00edpzw35","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210091902"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Aboubakarsedik Fekraoui","raw_affiliation_strings":["Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I4210091902"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042970411","display_name":"Assia Boulefkhad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091902","display_name":"Centre Hospitalo-Universitaire Dr Benbadis Constantine","ror":"https://ror.org/00edpzw35","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210091902"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Assia Boulefkhad","raw_affiliation_strings":["Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I4210091902"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109156609","display_name":"Noredine Abadi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I125485651","display_name":"University Fr\u00e8res Mentouri Constantine 1","ror":"https://ror.org/017wv6808","country_code":"DZ","type":"education","lineage":["https://openalex.org/I125485651"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Noredine Abadi","raw_affiliation_strings":["Laboratoire de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire, service de biochimie, universit\u00e9 Mentouri, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire, service de biochimie, universit\u00e9 Mentouri, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I125485651"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111670169","display_name":"Michel Koenig","orcid":"https://orcid.org/0009-0007-2421-212X","observed_orcids":["https://orcid.org/0009-0007-2421-212X","https://orcid.org/0000-0002-2430-7328"]},"institutions":[{"id":"https://openalex.org/I4210086872","display_name":"Institut de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire et cellulaire","ror":"https://ror.org/0015ws592","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872","https://openalex.org/I4210096427","https://openalex.org/I68947357"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Michel Koenig","raw_affiliation_strings":["Institut de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire et cellulaire, Ilkirch. Strasbourg, 67400 Strasbourg, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de g\u00e9n\u00e9tique et de biologie mol\u00e9culaire et cellulaire, Ilkirch. Strasbourg, 67400 Strasbourg, France","institution_ids":["https://openalex.org/I4210086872"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000760619","display_name":"Abdelmadjid Hamri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210091902","display_name":"Centre Hospitalo-Universitaire Dr Benbadis Constantine","ror":"https://ror.org/00edpzw35","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210091902"]}],"countries":["DZ"],"is_corresponding":false,"raw_author_name":"Abdelmadjid Hamri","raw_affiliation_strings":["Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de neurologie, h\u00f4pital Benbadis, CHU de Constantine, 25000 Constantine, Alg\u00e9rie","institution_ids":["https://openalex.org/I4210091902"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"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":0.094312,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"168","issue":null,"first_page":"A18","last_page":"A18"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.5131999850273132,"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":0.5131999850273132,"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":0.16269999742507935,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.09650000184774399,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.8579999804496765},{"id":"https://openalex.org/keywords/autosomal-recessive-ataxia","display_name":"autosomal recessive ataxia","score":0.8849999904632568},{"id":"https://openalex.org/keywords/cag-repeat-expansion","display_name":"CAG repeat expansion","score":0.5989999771118164},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6700000166893005},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5389999747276306},{"id":"https://openalex.org/keywords/psychosis","display_name":"psychosis","score":0.625},{"id":"https://openalex.org/keywords/psychoanalysis","display_name":"psychoanalysis","score":0.6060000061988831},{"id":"https://openalex.org/keywords/sigmund-freud","display_name":"Sigmund Freud","score":0.5920000076293945},{"id":"https://openalex.org/keywords/esquirol","display_name":"Esquirol","score":0.7580000162124634},{"id":"https://openalex.org/keywords/history-of-psychiatry","display_name":"history of psychiatry","score":0.6740000247955322}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.7941176891326904},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.7370390892028809}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1016/j.neurol.2012.01.040","doi":"https://doi.org/10.1016/j.neurol.2012.01.040","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.neurol.2012.01.040","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":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2070915945","https://openalex.org/W2031985150","https://openalex.org/W2010295008","https://openalex.org/W2071024725","https://openalex.org/W1989089128","https://openalex.org/W2024676438","https://openalex.org/W2060359151","https://openalex.org/W2032584344","https://openalex.org/W2092584430","https://openalex.org/W21112217"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-13T10:08:12.033832","created_date":"2016-06-24T00:00:00"}
