{"id":"https://openalex.org/W2145497697","doi":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","title":"The Autosomal Recessive Form of CMT Disease Linked to 5q31\u2010q33","display_name":"The Autosomal Recessive Form of CMT Disease Linked to 5q31\u2010q33","publication_year":1999,"publication_date":"1999-10-01","ids":{"openalex":"https://openalex.org/W2145497697","doi":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","mag":"2145497697","pmid":"https://pubmed.ncbi.nlm.nih.gov/10586230"},"language":"en","primary_location":{"id":"doi:10.1111/j.1749-6632.1999.tb08567.x","doi":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","pdf_url":null,"source":{"id":"https://openalex.org/S8802318","display_name":"Annals of the New York Academy of Sciences","issn_l":"0077-8923","issn":["0077-8923","1749-6632"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","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 the New York Academy of Sciences","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":null,"display_name":"A. GUILBOT","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":"A. GUILBOT","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082095807","display_name":"M. Kessali","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/I4210155467","display_name":"H\u00f4pital Mustapha Pacha","ror":"https://ror.org/056yje678","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210155467"]},{"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":["DZ","FR"],"is_corresponding":false,"raw_author_name":"M. KESSALI","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","Service de neurologie, CHU Mustapha, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Service de neurologie, CHU Mustapha, Algeria","institution_ids":["https://openalex.org/I4210155467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079533572","display_name":"Nicole Ravis\u00e9","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":"N. RAVIS\u00c9","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052661658","display_name":"Tarik Hamadouche","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/I4210155692","display_name":"Institut Pasteur d'Alg\u00e9rie","ror":"https://ror.org/052b46n78","country_code":"DZ","type":"facility","lineage":["https://openalex.org/I4210155692"]},{"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":["DZ","FR"],"is_corresponding":false,"raw_author_name":"T. HAMMADOUCHE","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","Institut Pasteur, Algiers, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Institut Pasteur, Algiers, Algeria","institution_ids":["https://openalex.org/I4210155692"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086162355","display_name":"Ahmed Bouhouche","orcid":"https://orcid.org/0000-0001-5279-8649","observed_orcids":["https://orcid.org/0000-0001-5279-8649"]},"institutions":[{"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. BOUHOUCHE","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","Service de neurologie, Ho\u0302pital des Spe\u0301cialite\u0301s, Rabat, Morocco"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Service de neurologie, Ho\u0302pital des Spe\u0301cialite\u0301s, Rabat, Morocco","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083225834","display_name":"Thierry Maisonobe","orcid":"https://orcid.org/0000-0002-9758-0085","observed_orcids":["https://orcid.org/0000-0002-9758-0085"]},"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":"T. MAISONOBE","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","Laboratoire de neuropathologie R. Escourolle, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Laboratoire de neuropathologie R. Escourolle, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I4210121705"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034648541","display_name":"D. Grid","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/I4210155467","display_name":"H\u00f4pital Mustapha Pacha","ror":"https://ror.org/056yje678","country_code":"DZ","type":"healthcare","lineage":["https://openalex.org/I4210155467"]},{"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":["DZ","FR"],"is_corresponding":false,"raw_author_name":"D. GRID","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","Service de neurologie, CHU Mustapha, Algeria"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Service de neurologie, CHU Mustapha, Algeria","institution_ids":["https://openalex.org/I4210155467"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027489586","display_name":"Alexis Brice","orcid":"https://orcid.org/0000-0002-0941-3990","observed_orcids":["https://orcid.org/0000-0002-0941-3990"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/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, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I4210121705"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]},{"author_position":"last","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":true,"raw_author_name":"E. LEGUERN","raw_affiliation_strings":["INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U289, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceF\u00e9d\u00e9ration de Neurologie, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceLaboratoire de neuropathologie R. Escourolle, H\u00f4pital de la Salp\u00eatri\u00e8re, Paris, FranceService de neurologie, CHU Mustapha, AlgeriaInstitut Pasteur, Algiers, AlgeriaService de neurologie, H\u00f4pital des Sp\u00e9cialit\u00e9s, Rabat, Morocco","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4405275326"]},{"raw_affiliation_string":"Fe\u0301de\u0301ration de Neurologie, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I4210121705"]},{"raw_affiliation_string":"INSERM U289, Ho\u0302pital de la Salpe\u0302trie\u0300re, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5023778362"],"corresponding_institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4405275326"],"apc_list":{"value":5080,"currency":"USD","value_usd":5080},"apc_paid":null,"fwci":0.3615,"has_fulltext":false,"cited_by_count":12,"citation_normalized_percentile":{"value":0.51427931,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"883","issue":"1","first_page":"56","last_page":"59"},"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","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"}},{"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"}}],"keywords":[{"id":"https://openalex.org/keywords/charcot-marie-tooth-disease","display_name":"Charcot-Marie-Tooth disease","score":0.9670000076293945},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9639999866485596},{"id":"https://openalex.org/keywords/hereditary-neuropathy","display_name":"hereditary neuropathy","score":0.6200000047683716},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.4309999942779541}],"concepts":[{"id":"https://openalex.org/C15708023","wikidata":"https://www.wikidata.org/wiki/Q80083","display_name":"Humanities","level":1,"score":0.548096239566803},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.3548573851585388},{"id":"https://openalex.org/C58640448","wikidata":"https://www.wikidata.org/wiki/Q42515","display_name":"Cartography","level":1,"score":0.32872384786605835},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.16173303127288818}],"mesh":[{"descriptor_ui":"D000462","descriptor_name":"Algeria","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002607","descriptor_name":"Charcot-Marie-Tooth Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","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":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1111/j.1749-6632.1999.tb08567.x","doi":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1749-6632.1999.tb08567.x","pdf_url":null,"source":{"id":"https://openalex.org/S8802318","display_name":"Annals of the New York Academy of Sciences","issn_l":"0077-8923","issn":["0077-8923","1749-6632"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-140","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 the New York Academy of Sciences","raw_type":"journal-article"},{"id":"pmid:10586230","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10586230","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 the New York Academy of Sciences","raw_type":"Case Reports"},{"id":"pmid:10586271","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10586271","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 the New York Academy of Sciences","raw_type":"Journal Article"},{"id":"pmid:29086979","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29086979","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 the New York Academy of Sciences","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.504800021648407,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W1965265115","https://openalex.org/W1976757571","https://openalex.org/W2015174770","https://openalex.org/W2026046334","https://openalex.org/W2076062350","https://openalex.org/W2082706367","https://openalex.org/W2093675497","https://openalex.org/W2123747766","https://openalex.org/W2135418519","https://openalex.org/W2155081234","https://openalex.org/W2167273347"],"related_works":["https://openalex.org/W2022091354","https://openalex.org/W2320016487","https://openalex.org/W2123747766","https://openalex.org/W2423317322","https://openalex.org/W1964008121","https://openalex.org/W2167273347","https://openalex.org/W4233144050","https://openalex.org/W2587517684","https://openalex.org/W2077267738","https://openalex.org/W1981983256"],"abstract_inverted_index":null,"counts_by_year":[{"year":2019,"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"}