{"id":"https://openalex.org/W2004161499","doi":"https://doi.org/10.1002/ana.410350411","title":"Autosomal\u2010dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I","display_name":"Autosomal\u2010dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I","publication_year":1994,"publication_date":"1994-04-01","ids":{"openalex":"https://openalex.org/W2004161499","doi":"https://doi.org/10.1002/ana.410350411","mag":"2004161499","pmid":"https://pubmed.ncbi.nlm.nih.gov/8154871"},"language":"en","primary_location":{"id":"doi:10.1002/ana.410350411","doi":"https://doi.org/10.1002/ana.410350411","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410350411","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5111540255","display_name":"Ali Benomar","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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"A. Benomar","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, France","INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":[]}]},{"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/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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"E. Le Guern","raw_affiliation_strings":["INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"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/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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. D\u00fcrr","raw_affiliation_strings":["INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047610533","display_name":"Hamid Ouhabi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H. Ouhabi","raw_affiliation_strings":["Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","institution_ids":[]},{"raw_affiliation_string":"Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":[]}]},{"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/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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"G. Stevanin","raw_affiliation_strings":["INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109657107","display_name":"M. Yahyaoui","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M. Yahyaoui","raw_affiliation_strings":["Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","institution_ids":[]},{"raw_affiliation_string":"Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109601234","display_name":"Ta\u00efeb Chkili","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T. Chkili","raw_affiliation_strings":["Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neurologie, Ho\u030cpital des Spe\u0301cialite\u0301s, Rabat, Morocco","institution_ids":[]},{"raw_affiliation_string":"Service de Neurologie, H\u01d2pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111717236","display_name":"Yves Agid","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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Y. Agid","raw_affiliation_strings":["INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"last","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/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/I4405275326","display_name":"Physiopathologie des Comportements","ror":"https://ror.org/03ct18y90","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Brice","raw_affiliation_strings":["INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, Ho\u030cpital de la Salpe\u030ctrie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, H\u01d2pital de la Salp\u011btri\u00e8re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5111540255"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"],"apc_list":{"value":4700,"currency":"USD","value_usd":4700},"apc_paid":null,"fwci":1.937,"has_fulltext":false,"cited_by_count":67,"citation_normalized_percentile":{"value":0.86579655,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"35","issue":"4","first_page":"439","last_page":"444"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9390000104904175,"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":0.9390000104904175,"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":0.050200000405311584,"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/T10691","display_name":"Retinal Development and Disorders","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinal-degeneration","display_name":"retinal degeneration","score":0.8640000224113464},{"id":"https://openalex.org/keywords/genetic-anticipation","display_name":"genetic anticipation","score":0.4860000014305115},{"id":"https://openalex.org/keywords/genomic-imprinting","display_name":"genomic imprinting","score":0.9089999794960022},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.6050000190734863},{"id":"https://openalex.org/keywords/rhodopsin","display_name":"rhodopsin","score":0.9359999895095825},{"id":"https://openalex.org/keywords/peripherin-rds","display_name":"peripherin/rds","score":0.9520000219345093},{"id":"https://openalex.org/keywords/candidate-gene-studies","display_name":"candidate gene association","score":0.6759999990463257},{"id":"https://openalex.org/keywords/hereditary-neurodegenerative-disorders","display_name":"hereditary neurodegenerative disease","score":0.5260000228881836}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.8107011318206787},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5663478374481201},{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.5466757416725159},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.515612781047821},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.5153512358665466},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.46214544773101807},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.41413646936416626},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.18691661953926086},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.13122713565826416}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012162","descriptor_name":"Retinal Degeneration","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ana.410350411","doi":"https://doi.org/10.1002/ana.410350411","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ana.410350411","pdf_url":null,"source":{"id":"https://openalex.org/S114530997","display_name":"Annals of Neurology","issn_l":"0364-5134","issn":["0364-5134","1531-8249"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Neurology","raw_type":"journal-article"},{"id":"pmid:8154871","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8154871","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":"Annals of neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"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":28,"referenced_works":["https://openalex.org/W26813210","https://openalex.org/W1549470101","https://openalex.org/W1587714652","https://openalex.org/W1604929717","https://openalex.org/W1993701291","https://openalex.org/W2006101507","https://openalex.org/W2008706402","https://openalex.org/W2018716777","https://openalex.org/W2022675748","https://openalex.org/W2023675434","https://openalex.org/W2024276950","https://openalex.org/W2026042821","https://openalex.org/W2027961277","https://openalex.org/W2036012055","https://openalex.org/W2040857340","https://openalex.org/W2052756664","https://openalex.org/W2054184368","https://openalex.org/W2061369759","https://openalex.org/W2061941091","https://openalex.org/W2063970228","https://openalex.org/W2089233372","https://openalex.org/W2095019990","https://openalex.org/W2118094114","https://openalex.org/W2120623874","https://openalex.org/W2121642311","https://openalex.org/W2146472335","https://openalex.org/W2167119720","https://openalex.org/W2255469197"],"related_works":["https://openalex.org/W2082170230","https://openalex.org/W2044295706","https://openalex.org/W2151583103","https://openalex.org/W80763783","https://openalex.org/W2396899033","https://openalex.org/W2097800106","https://openalex.org/W1972666360","https://openalex.org/W1481753668","https://openalex.org/W2168385040","https://openalex.org/W2019855110"],"abstract_inverted_index":{"Autosomal-dominant":[0],"cerebellar":[1,12,92],"ataxia":[2,13,93],"(ADCA)":[3],"type":[4,27,89,122,138],"II":[5,28,123],"is":[6],"a":[7,55],"neurodegenerative":[8],"disorder":[9],"presenting":[10],"with":[11,25,51,59,79],"and":[14,32,66,95,108,113],"retinal":[15],"degeneration.":[16],"We":[17],"analyzed":[18],"the":[19,70,77,80,109,133],"clinical":[20],"features":[21],"of":[22,57,63,69,132],"21":[23],"patients":[24],"ADCA":[26,88,121,137],"from":[29,128],"3":[30],"Moroccan":[31],"2":[33],"French":[34],"families.":[35],"Mean":[36],"age":[37],"at":[38],"onset":[39,65],"was":[40,54],"17":[41],"years":[42],"earlier":[43],"in":[44,47,76],"offspring":[45],"than":[46],"their":[48],"parents,":[49],"compatible":[50],"anticipation.":[52],"There":[53],"suggestion":[56],"imprinting,":[58],"predominantly":[60],"paternal":[61],"transmission":[62],"early":[64],"severe":[67],"forms":[68],"affection.":[71],"Candidate":[72],"genes":[73,110,135],"were":[74,97,100],"tested":[75,134],"family":[78],"largest":[81],"pedigree.":[82],"The":[83],"two":[84],"known":[85],"loci":[86],"for":[87,111,116,136],"I":[90,139],"(spinal":[91],"1":[94,105],"2)":[96],"excluded,":[98],"as":[99],"candidate":[101],"loci,":[102],"retinitis":[103,119,143],"pigmentosa":[104],"locus":[106],"(RP1)":[107],"rhodopsin":[112],"peripherin-rds,":[114],"responsible":[115],"autosomal":[117,141],"dominant":[118,142],"pigmentosa.":[120,144],"does":[124],"not":[125],"therefore":[126],"result":[127],"an":[129],"allelic":[130],"mutation":[131],"or":[140]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}