{"id":"https://openalex.org/W2018172993","doi":"https://doi.org/10.1001/archneurol.2011.81","title":"SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia","display_name":"SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia","publication_year":2011,"publication_date":"2011-05-01","ids":{"openalex":"https://openalex.org/W2018172993","doi":"https://doi.org/10.1001/archneurol.2011.81","mag":"2018172993","pmid":"https://pubmed.ncbi.nlm.nih.gov/21555639","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3142680"},"language":"en","primary_location":{"id":"doi:10.1001/archneurol.2011.81","doi":"https://doi.org/10.1001/archneurol.2011.81","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneurol.2011.81","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3142680","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041337674","display_name":"C\u00e9cilia Marelli","orcid":"https://orcid.org/0000-0002-9543-6311","observed_orcids":["https://orcid.org/0000-0002-9543-6311"]},"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/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Cecilia Marelli","raw_affiliation_strings":["INSERM U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, Groupe Hospitalier Piti\u00e9 Salp\u00eatri\u00e8re, 47 Boulevard de l'H\u00f4pital, Paris Cedex 13, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"INSERM U975, Centre de Recherche de l'Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, Groupe Hospitalier Piti\u00e9 Salp\u00eatri\u00e8re, 47 Boulevard de l'H\u00f4pital, Paris Cedex 13, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I4210121705","https://openalex.org/I4210152724"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081655667","display_name":"Joyce van de Leemput","orcid":"https://orcid.org/0000-0003-1903-7295","observed_orcids":["https://orcid.org/0000-0003-1903-7295"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Joyce van de Leemput","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103839663","display_name":"Janel O. Johnson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Janel O. Johnson","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107346849","display_name":"Fran\u00e7ois Tison","orcid":"https://orcid.org/0000-0003-0643-8110","observed_orcids":["https://orcid.org/0000-0003-0643-8110"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Francois Tison","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012156827","display_name":"Christel Thauvin\u2010Robinet","orcid":"https://orcid.org/0000-0002-4155-139X","observed_orcids":["https://orcid.org/0000-0002-4155-139X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Christel Thauvin-Robinet","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017399734","display_name":"Fabienne Picard","orcid":"https://orcid.org/0000-0001-9120-1761","observed_orcids":["https://orcid.org/0000-0001-9120-1761"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Fabienne Picard","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026172432","display_name":"Christine Tranchant","orcid":"https://orcid.org/0000-0002-2895-1292","observed_orcids":["https://orcid.org/0000-0002-2895-1292"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Christine Tranchant","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101776731","display_name":"Dena G. Hernandez","orcid":"https://orcid.org/0000-0002-0188-9927","observed_orcids":["https://orcid.org/0000-0002-0188-9927"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Dena G. Hernandez","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069185098","display_name":"Bernard Huttin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Bernard Huttin","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019117716","display_name":"J Boulliat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Jacques Boulliat","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055206380","display_name":"Iban Sangla","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Iban Sangla","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054899787","display_name":"Christian Marescaux","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Christian Marescaux","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048247675","display_name":"Serge Brique","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Serge Brique","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066070904","display_name":"H\u00e9l\u00e8ne Dollfus","orcid":"https://orcid.org/0000-0002-2249-895X","observed_orcids":["https://orcid.org/0000-0002-2249-895X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"H\u00e9l\u00e8ne Dollfus","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112282710","display_name":"Sampath Arepalli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Sampath Arepalli","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071750858","display_name":"Isabelle B\u00e9natru","orcid":"https://orcid.org/0000-0002-3642-6914","observed_orcids":["https://orcid.org/0000-0002-3642-6914"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Isabelle Benatru","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009100463","display_name":"Elisabeth Ollagnon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Elisabeth Ollagnon","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"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/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Sylvie Forlani","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020514779","display_name":"John Hardy","orcid":"https://orcid.org/0000-0002-3122-0423","observed_orcids":["https://orcid.org/0000-0002-3122-0423"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"John Hardy","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"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/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Giovanni Stevanin","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"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/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Alexandra D\u00fcrr","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100694605","display_name":"Andrew Singleton","orcid":"https://orcid.org/0000-0001-5606-700X","observed_orcids":["https://orcid.org/0000-0001-5606-700X"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Andrew Singleton","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]},{"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/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"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/I4210106256","display_name":"University Hospital of Geneva","ror":"https://ror.org/01m1pv723","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I4210106256"]},{"id":"https://openalex.org/I4210152724","display_name":"Institut du Cerveau","ror":"https://ror.org/050gn5214","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I4210096427","https://openalex.org/I4210152724"]},{"id":"https://openalex.org/I4210163538","display_name":"H\u00f4pital Civil, Strasbourg","ror":"https://ror.org/05fkq4848","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210145324","https://openalex.org/I4210163538"]},{"id":"https://openalex.org/I4405260083","display_name":"UCL Queen Square Institute of Neurology","ror":"https://ror.org/0370htr03","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4405260083","https://openalex.org/I45129253"]},{"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/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["CH","FR","GB","US"],"is_corresponding":false,"raw_author_name":"Alexis Brice","raw_affiliation_strings":["Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e9 Pierre et Marie Curie-Paris6, Centre de Recherche de l\u2019Institut du Cerveau et de la Moelle \u00c9pini\u00e8re, UMR-S975, Paris, France ; Inserm, U975, Paris, France ; AP-HP, H\u00f4pital de la Salp\u00eatri\u00e8re, Department of Genetics and Cytogenetics, F-75013, Paris, France (Drs Marelli, Stevanin, D\u00fcrr, and Brice), Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA (Drs van de Leemput, Hernandez, Arepalli, and Singleton), Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK (Drs Johnson, Hernandez and Hardy), Department of Neurology, H\u00f4pital Universitaire de Bordeaux, Bordeaux, France (Dr Tison), Department of Genetics, CHU Dijon, France (Dr Thauvin-Robinet), Department of Neurology, University Hospital and Medical School of Geneva, Geneva, Switzerland (Dr Picard), Department of Neurology, H\u00f4pital Civil, Strasbourg, France (Drs Tranchant and Marescaux), Department of Neurology, Centre Hospit","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I154526488","https://openalex.org/I4210106256","https://openalex.org/I4210152724","https://openalex.org/I4210163538","https://openalex.org/I4405260083","https://openalex.org/I4405264447","https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.1286,"has_fulltext":false,"cited_by_count":73,"citation_normalized_percentile":{"value":0.85737519,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":99},"biblio":{"volume":"68","issue":"5","first_page":"637","last_page":"43"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0008999999845400453,"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/T13481","display_name":"Neurological diseases and metabolism","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/autosomal-dominant-cerebellar-ataxia","display_name":"autosomal dominant cerebellar ataxia","score":0.9700000286102295},{"id":"https://openalex.org/keywords/copy-number-alterations","display_name":"copy number alterations","score":0.8190000057220459},{"id":"https://openalex.org/keywords/phenotypic-spectrum","display_name":"phenotypic spectrum","score":0.7799999713897705},{"id":"https://openalex.org/keywords/cerebellar-atrophy","display_name":"cerebellar atrophy","score":0.878000020980835},{"id":"https://openalex.org/keywords/pyramidal-signs","display_name":"pyramidal signs","score":0.8790000081062317},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.8190000057220459},{"id":"https://openalex.org/keywords/age-of-onset","display_name":"age of onset","score":0.7400000095367432},{"id":"https://openalex.org/keywords/white-families","display_name":"White family","score":0.46700000762939453}],"concepts":[{"id":"https://openalex.org/C2780148635","wikidata":"https://www.wikidata.org/wiki/Q154709","display_name":"Cerebellar ataxia","level":3,"score":0.6585292220115662},{"id":"https://openalex.org/C2779500118","wikidata":"https://www.wikidata.org/wiki/Q899726","display_name":"Spinocerebellar ataxia","level":3,"score":0.649971604347229},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.6131030917167664},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.5707507729530334},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4337650239467621},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4155634641647339},{"id":"https://openalex.org/C2908670167","wikidata":"https://www.wikidata.org/wiki/Q827017","display_name":"Gait Ataxia","level":3,"score":0.41424891352653503},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41312333941459656},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.35199466347694397},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3265824019908905},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.27375108003616333},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.2614437937736511},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.05905956029891968}],"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":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002531","descriptor_name":"Cerebellum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009759","descriptor_name":"Nystagmus, Pathologic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012438","descriptor_name":"Saccades","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017353","descriptor_name":"Gene Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017422","descriptor_name":"Sequence Analysis, DNA","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017668","descriptor_name":"Age of Onset","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020754","descriptor_name":"Spinocerebellar Ataxias","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053496","descriptor_name":"Inositol 1,4,5-Trisphosphate Receptors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1001/archneurol.2011.81","doi":"https://doi.org/10.1001/archneurol.2011.81","is_oa":false,"landing_page_url":"https://doi.org/10.1001/archneurol.2011.81","pdf_url":null,"source":{"id":"https://openalex.org/S4210230857","display_name":"Archives of Neurology","issn_l":"0003-9942","issn":["0003-9942","1538-3687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core"],"host_organization":"https://openalex.org/P4310320259","host_organization_name":"American Medical Association","host_organization_lineage":["https://openalex.org/P4310320259"],"host_organization_lineage_names":["American Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Neurology","raw_type":"journal-article"},{"id":"pmid:21555639","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21555639","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":"Archives of neurology","raw_type":"Journal Article"},{"id":"pmh:oai:europepmc.org:2148760","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3142680","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3142680","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3142680","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Arch Neurol","raw_type":"Text"},{"id":"pmh:oai:unige.ch:unige:37956","doi":null,"is_oa":false,"landing_page_url":"https://archive-ouverte.unige.ch/unige:37956","pdf_url":null,"source":{"id":"https://openalex.org/S4306402259","display_name":"Archive ouverte UNIGE (University of Geneva)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I114457229","host_organization_name":"University of Geneva","host_organization_lineage":["https://openalex.org/I114457229"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"ISSN: 0003-9942","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:HAL:hal-05259729v1","doi":null,"is_oa":false,"landing_page_url":"https://univoak.hal.science/hal-05259729","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":"http://jamanetwork.com/journals/jamaneurology/fullarticle/803061","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:1309993","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/1309993/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ARCH NEUROL-CHICAGO , 68 (5) 637 - 643. (2011)","raw_type":"Article"},{"id":"pmh:oai:unige.ch:aou:unige:37956","doi":null,"is_oa":true,"landing_page_url":"https://archive-ouverte.unige.ch/unige:37956","pdf_url":null,"source":{"id":"https://openalex.org/S4306402259","display_name":"Archive ouverte UNIGE (University of Geneva)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I114457229","host_organization_name":"University of Geneva","host_organization_lineage":["https://openalex.org/I114457229"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ISSN: 0003-9942","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:univoak.eu:islandora_57221","doi":null,"is_oa":false,"landing_page_url":"https://univoak.eu/islandora/object/islandora%3A57221","pdf_url":null,"source":{"id":"https://openalex.org/S4306402449","display_name":"univOAK (4 institutions : Universit\u00e9 de Strasbourg, Universit\u00e9 de Haute Alsace, INSA Strasbourg, Biblioth\u00e8que Nationale et Universitaire de Strasbourg)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210100283","host_organization_name":"Laboratoire des Sciences de l'Ing\u00e9nieur, de l'Informatique et de l'Imagerie","host_organization_lineage":["https://openalex.org/I4210100283"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2148760","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3142680","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"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":[{"id":"https://openalex.org/G2276278987","display_name":"Genetic analysis in families with neurological disease","funder_award_id":"Z01AG000958","funder_id":"https://openalex.org/F4320337337","funder_display_name":"National Institute on Aging"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337337","display_name":"National Institute on Aging","ror":"https://ror.org/049v75w11"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W27730732","https://openalex.org/W100916699","https://openalex.org/W1886758677","https://openalex.org/W1900742204","https://openalex.org/W1970427488","https://openalex.org/W2015284446","https://openalex.org/W2020975516","https://openalex.org/W2043888873","https://openalex.org/W2051255378","https://openalex.org/W2066261176","https://openalex.org/W2070053976","https://openalex.org/W2073297263","https://openalex.org/W2075681146","https://openalex.org/W2094078600","https://openalex.org/W2102459791","https://openalex.org/W2102544386","https://openalex.org/W2105954114","https://openalex.org/W2113269783","https://openalex.org/W2115648594","https://openalex.org/W2115807468","https://openalex.org/W2116155310","https://openalex.org/W2120600363","https://openalex.org/W2126935429","https://openalex.org/W2151059333","https://openalex.org/W2253567523","https://openalex.org/W2918062993","https://openalex.org/W3189945365"],"related_works":["https://openalex.org/W2015284446","https://openalex.org/W2049614620","https://openalex.org/W2299643824","https://openalex.org/W2052080878","https://openalex.org/W2054491494","https://openalex.org/W2120600363","https://openalex.org/W3024983734","https://openalex.org/W1975736050","https://openalex.org/W1521302963","https://openalex.org/W7100964464"],"abstract_inverted_index":{"BACKGROUND:":[0],"Deletions":[1],"in":[2,15,100,119,155,210,255],"ITPR1,":[3],"coding":[4,101],"for":[5,96,223],"the":[6,24,27,52,66,72,77],"inositol-triphosphate":[7],"receptor":[8],"type":[9,18],"1,":[10],"have":[11],"been":[12],"recently":[13],"identified":[14],"spinocerebellar":[16],"ataxia":[17,94,243],"15":[19],"(SCA15).":[20],"OBJECTIVE:":[21],"To":[22],"determine":[23],"frequency":[25],"and":[26,71,178,192,221,253],"phenotypical":[28],"spectrum":[29],"of":[30,65,76,80,87,107,115,121,168,226,237],"SCA15.":[31,130],"DESIGN:":[32],"Taqman":[33],"polymerase":[34],"chain":[35],"reaction":[36],"(258":[37],"index":[38,46],"cases)":[39],"or":[40,205],"single-nucleotide":[41],"polymorphism":[42],"genome-wide":[43],"genotyping":[44],"(75":[45],"cases).":[47],"SETTING:":[48],"A":[49,113],"collaboration":[50],"between":[51],"Centre":[53],"de":[54,56,58,61],"Recherche":[55],"l'Institut":[57],"Cerveau":[59],"et":[60],"la":[62],"Moelle":[63],"Epini\u00e8re":[64],"Salp\u00eatri\u00e8re":[67],"Hospital":[68],"(Paris,":[69],"France)":[70],"Molecular":[73],"Genetics":[74],"Unit":[75],"National":[78],"Institute":[79],"Aging":[81],"(Bethesda,":[82],"Maryland).":[83],"Patients":[84],"Index":[85],"cases":[86],"333":[88,122],"families":[89,123,164],"with":[90,129,158,172,244],"autosomal":[91,228],"dominant":[92,229],"cerebellar":[93,151,185,208,230,242],"negative":[95],"CAG":[97],"repeat":[98],"expansions":[99],"exons.":[102],"MAIN":[103],"OUTCOME":[104],"MEASURES:":[105],"Detection":[106],"ITPR1":[108,116,217],"copy":[109],"number":[110],"alterations.":[111],"RESULTS:":[112],"deletion":[114],"was":[117,150],"found":[118],"6":[120],"(1.8%),":[124],"corresponding":[125],"to":[126,137],"13":[127],"patients":[128,171],"Age":[131],"at":[132,148,247],"onset":[133,149],"ranged":[134],"from":[135],"18":[136],"66":[138],"years":[139],"(mean":[140],"[SD]":[141],"age,":[142],"35":[143],"[16]":[144],"years).":[145],"The":[146,232],"symptom":[147],"gait":[152],"ataxia,":[153],"except":[154],"1":[156],"patient":[157],"isolated":[159,241],"upper":[160],"limb":[161],"tremor.":[162],"Although":[163],"were":[165,179,198,219],"tested":[166],"irrespective":[167],"their":[169],"phenotype,":[170],"SCA15":[173,233],"had":[174],"a":[175,182,238],"homogeneous":[176],"phenotype":[177,234],"characterized":[180],"by":[181],"slowly":[183,239],"progressive":[184,240],"ataxia.":[186],"However,":[187],"pyramidal":[188,251],"signs":[189],"(2":[190,196],"patients)":[191,197],"mild":[193],"cognitive":[194],"problems":[195,254],"occasionally":[199],"present.":[200,260],"Radiologic":[201],"findings":[202],"showed":[203],"global":[204],"predominant":[206],"vermian":[207],"atrophy":[209],"all":[211,227],"patients.":[212],"CONCLUSIONS:":[213],"In":[214],"this":[215],"series,":[216],"deletions":[218],"rare":[220],"accounted":[222],"approximately":[224],"1%":[225],"ataxias.":[231],"mostly":[235],"consists":[236],"variable":[245],"age":[246],"onset;":[248],"an":[249],"additional":[250],"syndrome":[252],"executive":[256],"functions":[257],"may":[258],"be":[259]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":5},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":5},{"year":2017,"cited_by_count":9},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":7},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}