{"id":"https://openalex.org/W2058543711","doi":"https://doi.org/10.1038/378403a0","title":"Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias","display_name":"Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias","publication_year":1995,"publication_date":"1995-11-01","ids":{"openalex":"https://openalex.org/W2058543711","doi":"https://doi.org/10.1038/378403a0","mag":"2058543711","pmid":"https://pubmed.ncbi.nlm.nih.gov/7477379"},"language":"en","primary_location":{"id":"doi:10.1038/378403a0","doi":"https://doi.org/10.1038/378403a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/378403a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","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/A5004447443","display_name":"Yvon Trottier","orcid":"https://orcid.org/0000-0001-7230-4810","observed_orcids":["https://orcid.org/0000-0001-7230-4810"]},"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/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":"Yvon Trottier","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (GBMC), CNRS, INSERM, Illkirch, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (GBMC), CNRS, INSERM, Illkirch, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049817659","display_name":"Yves Lutz","orcid":"https://orcid.org/0000-0002-3811-0526","observed_orcids":["https://orcid.org/0000-0002-3811-0526"]},"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/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":"Yves Lutz","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"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":"Giovanni Stevanin","raw_affiliation_strings":["INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","INSERM U 289, H\u00f3pital de la Salp\u00e9tri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U 289, H\u00f3pital de la Salp\u00e9tri\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/A5114250571","display_name":"Georges Imbert","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/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":"Georges Imbert","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061293875","display_name":"Didier Devys","orcid":"https://orcid.org/0000-0001-9655-3512","observed_orcids":["https://orcid.org/0000-0001-9655-3512"]},"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/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":"Didier Devys","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013493405","display_name":"G\u00e9raldine Cancel\u2010Tassin","orcid":"https://orcid.org/0000-0002-9583-6382","observed_orcids":["https://orcid.org/0000-0002-9583-6382"]},"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\u00e9raldine Cancel","raw_affiliation_strings":["INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","INSERM U 289, H\u00f3pital de la Salp\u00e9tri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U 289, H\u00f3pital de la Salp\u00e9tri\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/A5019369425","display_name":"Fr\u00e9d\u00e9ric Saudou","orcid":"https://orcid.org/0000-0001-6107-1046","observed_orcids":["https://orcid.org/0000-0001-6107-1046"]},"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/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":"Fr\u00e9d\u00e9ric Saudou","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Chantal Weber","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/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":"Chantal Weber","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Gilles David","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":"Gilles David","raw_affiliation_strings":["INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","INSERM U 289, H\u00f3pital de la Salp\u00e9tri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U 289, H\u00f3pital de la Salp\u00e9tri\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/A5017404099","display_name":"L\u00e0szl\u00f2 Tora","orcid":"https://orcid.org/0000-0001-7398-2250","observed_orcids":["https://orcid.org/0000-0001-7398-2250"]},"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/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":"Laszlo Tora","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"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":"Yves Agid","raw_affiliation_strings":["INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","INSERM U 289, H\u00f3pital de la Salp\u00e9tri\u00e8re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U.289, H\u00f4pital de la Salp\u00eatri\u00e8re, 75651, Paris, Cedex 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U 289, H\u00f3pital de la Salp\u00e9tri\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/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/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":"Alexis Brice","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5009591144","display_name":"Jean\u2010Louis Mandel","orcid":"https://orcid.org/0000-0002-0535-6589","observed_orcids":["https://orcid.org/0000-0002-0535-6589"]},"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/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":"Jean-Louis Mandel","raw_affiliation_strings":["Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS, INSERM, ULP, B.P. 163, 67404, Illkirch C\u00e9dex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]},{"raw_affiliation_string":"Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, Illkirch Cedex, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210086872"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":17.8518,"has_fulltext":false,"cited_by_count":654,"citation_normalized_percentile":{"value":0.99777251,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":92,"max":100},"biblio":{"volume":"378","issue":"6555","first_page":"403","last_page":"406"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":1.0,"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":1.0,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0,"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/polyglutamine-expansion","display_name":"polyglutamine expansion","score":0.9990000128746033},{"id":"https://openalex.org/keywords/huntington-s-disease","display_name":"Huntington's disease","score":0.8899999856948853},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-1","display_name":"spinocerebellar ataxia type 1","score":0.9539999961853027},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-3","display_name":"spinocerebellar ataxia type 3","score":0.9810000061988831},{"id":"https://openalex.org/keywords/spinocerebellar-ataxia-type-2","display_name":"spinocerebellar ataxia type 2","score":0.9409999847412109},{"id":"https://openalex.org/keywords/cag-repeat","display_name":"CAG repeat","score":0.7070000171661377},{"id":"https://openalex.org/keywords/monoclonal-antibodies","display_name":"monoclonal antibodies","score":0.8809999823570251},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.7599999904632568},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.7269999980926514},{"id":"https://openalex.org/keywords/gain-of-function-toxicity","display_name":"gain-of-function toxicity","score":0.628000020980835}],"concepts":[{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.8727863430976868},{"id":"https://openalex.org/C2776925932","wikidata":"https://www.wikidata.org/wiki/Q1755122","display_name":"Neurodegeneration","level":3,"score":0.8333092331886292},{"id":"https://openalex.org/C166252455","wikidata":"https://www.wikidata.org/wiki/Q6736610","display_name":"Trinucleotide repeat expansion","level":4,"score":0.7511711120605469},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6152397990226746},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5817850828170776},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.5398852229118347},{"id":"https://openalex.org/C2777748165","wikidata":"https://www.wikidata.org/wiki/Q3026441","display_name":"Machado\u2013Joseph disease","level":4,"score":0.4473586678504944},{"id":"https://openalex.org/C2777427615","wikidata":"https://www.wikidata.org/wiki/Q954257","display_name":"Degenerative disease","level":3,"score":0.42646458745002747},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.37334489822387695},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.33270180225372314},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.31402549147605896},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3001735210418701},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.27371713519096375},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.18828853964805603},{"id":"https://openalex.org/C2779281540","wikidata":"https://www.wikidata.org/wiki/Q5062122","display_name":"Central nervous system disease","level":2,"score":0.14740073680877686},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.09688124060630798}],"mesh":[{"descriptor_ui":"D000067528","descriptor_name":"Ataxins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000067696","descriptor_name":"Ataxin-1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000071058","descriptor_name":"Huntingtin Protein","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":"D000911","descriptor_name":"Antibodies, Monoclonal","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D002460","descriptor_name":"Cell Line","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002524","descriptor_name":"Cerebellar Ataxia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D005973","descriptor_name":"Glutamine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006816","descriptor_name":"Huntington Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D015153","descriptor_name":"Blotting, Western","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035181","descriptor_name":"TATA-Box Binding Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1038/378403a0","doi":"https://doi.org/10.1038/378403a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/378403a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},{"id":"pmid:7477379","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7477379","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":"Nature","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-03504430v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-03504430","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":"Nature, 1995, 378 (6555), pp.403-406. &#x27E8;10.1038/378403a0&#x27E9;","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":28,"referenced_works":["https://openalex.org/W320955165","https://openalex.org/W1965358081","https://openalex.org/W1972666360","https://openalex.org/W1976131446","https://openalex.org/W1978580506","https://openalex.org/W1989429141","https://openalex.org/W1993191686","https://openalex.org/W1993513971","https://openalex.org/W1995931393","https://openalex.org/W2008706402","https://openalex.org/W2012442320","https://openalex.org/W2012481532","https://openalex.org/W2013203409","https://openalex.org/W2020227900","https://openalex.org/W2047218822","https://openalex.org/W2050403670","https://openalex.org/W2067774668","https://openalex.org/W2073012734","https://openalex.org/W2078913984","https://openalex.org/W2113333419","https://openalex.org/W2116758780","https://openalex.org/W2121642311","https://openalex.org/W2127811626","https://openalex.org/W2137374371","https://openalex.org/W2145005291","https://openalex.org/W2255469197","https://openalex.org/W2315377176","https://openalex.org/W2993418498"],"related_works":["https://openalex.org/W3093717363","https://openalex.org/W2268347507","https://openalex.org/W4256543142","https://openalex.org/W2110571604","https://openalex.org/W7100172720","https://openalex.org/W170645496","https://openalex.org/W2107632226","https://openalex.org/W2119210227","https://openalex.org/W111105946","https://openalex.org/W4387773342"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":7},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":15},{"year":2021,"cited_by_count":15},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":14},{"year":2018,"cited_by_count":20},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":16},{"year":2015,"cited_by_count":20},{"year":2014,"cited_by_count":10},{"year":2013,"cited_by_count":14},{"year":2012,"cited_by_count":21}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}
