{"id":"https://openalex.org/W2155879009","doi":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","title":"SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years","display_name":"SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years","publication_year":2006,"publication_date":"2006-01-10","ids":{"openalex":"https://openalex.org/W2155879009","doi":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","mag":"2155879009","pmid":"https://pubmed.ncbi.nlm.nih.gov/16401858"},"language":"en","primary_location":{"id":"doi:10.1212/01.wnl.0000191390.20564.8e","doi":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5087193447","display_name":"Michito Namekawa","orcid":"https://orcid.org/0000-0002-0070-2796","observed_orcids":["https://orcid.org/0000-0002-0070-2796"]},"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"]},{"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":"M. Namekawa","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064281919","display_name":"Pascale Riba\u0131\u0308","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/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"]},{"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":"P. Ribai","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021563218","display_name":"Isabelle P. Nelson","orcid":"https://orcid.org/0000-0001-6390-622X","observed_orcids":["https://orcid.org/0000-0001-6390-622X"]},"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"]},{"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":"I. Nelson","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053457443","display_name":"Sylvie Forlani","orcid":"https://orcid.org/0009-0006-1899-0171","observed_orcids":["https://orcid.org/0009-0006-1899-0171"]},"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"]},{"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":"S. Forlani","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091284849","display_name":"Florence Fellmann","orcid":"https://orcid.org/0000-0003-3156-4768","observed_orcids":["https://orcid.org/0000-0003-3156-4768"]},"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"]},{"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":"F. Fellmann","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056096494","display_name":"Cyril Goizet","orcid":"https://orcid.org/0000-0002-1913-889X","observed_orcids":["https://orcid.org/0000-0002-1913-889X"]},"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"]},{"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":"C. Goizet","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020006642","display_name":"Christel Depienne","orcid":"https://orcid.org/0000-0002-7212-9554","observed_orcids":["https://orcid.org/0000-0002-7212-9554"]},"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"]},{"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":"C. Depienne","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"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/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"]},{"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":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075704131","display_name":"Merle Ruberg","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/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"]},{"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":"M. Ruberg","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","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/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"]},{"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. Du\u0308rr","raw_affiliation_strings":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","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/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"]},{"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":["From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From INSERM U679 (former U289), Federative Institute for Neuroscience Research (IFR70), Salpe\u0302trie\u0300re Hospital, Paris, France (M.N., P.R., I.N., S.F., C.D., G.S., M.R., A.D., A.B.); Department of Genetics Cytogenetics and Embryology (P.R., G.S., A.D., A.B.) and Federation of Neurology (A.B.), AP-HP, Salpe\u0302trie\u0300re Hospital, Paris, France; Salpe\u0302trie\u0300re Medical School, Pierre and Marie Curie University, Paris, France (A.B.); Centre Hospitalier Universitaire de Besanc\u0327on, Besanc\u0327on, France (F.F.); and","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210121705","https://openalex.org/I4405264447","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":4.0501,"has_fulltext":false,"cited_by_count":114,"citation_normalized_percentile":{"value":0.95023206,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"66","issue":"1","first_page":"112","last_page":"114"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","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/T12331","display_name":"Hereditary Neurological Disorders","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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"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/T11735","display_name":"Peripheral Neuropathies and Disorders","score":0.0,"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/spg3a","display_name":"SPG3A","score":0.9860000014305115},{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9559999704360962},{"id":"https://openalex.org/keywords/autosomal-dominant-spastic-paraplegia","display_name":"autosomal dominant spastic paraplegia","score":0.8399999737739563},{"id":"https://openalex.org/keywords/spg4","display_name":"SPG4","score":0.7749999761581421},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7789999842643738},{"id":"https://openalex.org/keywords/disease-duration","display_name":"disease duration","score":0.7300000190734863},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6650000214576721}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.9536378383636475},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6519399881362915},{"id":"https://openalex.org/C2777597760","wikidata":"https://www.wikidata.org/wiki/Q1049655","display_name":"Paraplegia","level":3,"score":0.6436384320259094},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.6417019963264465},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.6311108469963074},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.6228458285331726},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4981956481933594},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3573259115219116},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2752649784088135},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.25195997953414917},{"id":"https://openalex.org/C1862650","wikidata":"https://www.wikidata.org/wiki/Q186005","display_name":"Physical therapy","level":1,"score":0.15757068991661072},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.15643242001533508},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08958488702774048},{"id":"https://openalex.org/C2780775167","wikidata":"https://www.wikidata.org/wiki/Q9606","display_name":"Spinal cord","level":2,"score":0.08607453107833862},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.047362834215164185},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"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":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005192","descriptor_name":"Family Health","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","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":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010525","descriptor_name":"Peripheral Nerves","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010525","descriptor_name":"Peripheral Nerves","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014855","descriptor_name":"Wallerian Degeneration","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014855","descriptor_name":"Wallerian Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015419","descriptor_name":"Spastic Paraplegia, Hereditary","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019204","descriptor_name":"GTP-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020558","descriptor_name":"GTP Phosphohydrolases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1212/01.wnl.0000191390.20564.8e","doi":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","is_oa":false,"landing_page_url":"https://doi.org/10.1212/01.wnl.0000191390.20564.8e","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},{"id":"pmid:16401858","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16401858","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W1506466708","https://openalex.org/W1968624985","https://openalex.org/W1980766881","https://openalex.org/W2068619217","https://openalex.org/W2139683636","https://openalex.org/W2160913295","https://openalex.org/W2166665073"],"related_works":["https://openalex.org/W7096523831","https://openalex.org/W2080277985","https://openalex.org/W1992308819","https://openalex.org/W2077588182","https://openalex.org/W2041238881","https://openalex.org/W132478464","https://openalex.org/W2036913618","https://openalex.org/W1979201011","https://openalex.org/W2998213618","https://openalex.org/W2151370623"],"abstract_inverted_index":{"Seven":[0],"families":[1],"with":[2,11,33],"six":[3],"different":[4],"SPG3A":[5,24],"mutations":[6,19],"were":[7,20],"identified":[8],"among":[9],"106":[10],"autosomal":[12],"dominant":[13],"hereditary":[14],"spastic":[15],"paraplegia":[16],"(HSP).":[17],"Two":[18],"novel":[21],"(T162P,":[22],"C375R).":[23],"was":[25,42,47,53],"twice":[26],"as":[27,29],"frequent":[28],"SPG4":[30],"in":[31,56],"patients":[32],"onset":[34,41],"before":[35],"age":[36],"10":[37],"years":[38],"(31.8%).":[39],"Later":[40],"not":[43],"observed.":[44],"The":[45],"phenotype":[46],"pure":[48],"HSP,":[49],"but":[50],"disease":[51],"duration":[52],"longer":[54],"than":[55],"non-SPG3A/SPG4":[57],"patients,":[58],"leading":[59],"ultimately":[60],"to":[61],"greater":[62],"handicap.":[63]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":9},{"year":2014,"cited_by_count":8},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}