{"id":"https://openalex.org/W4234279151","doi":"https://doi.org/10.1016/j.ajhg.2016.05.009","title":"Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia","display_name":"Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia","publication_year":2016,"publication_date":"2016-06-01","ids":{"openalex":"https://openalex.org/W4234279151","doi":"https://doi.org/10.1016/j.ajhg.2016.05.009"},"language":"en","primary_location":{"id":"doi:10.1016/j.ajhg.2016.05.009","doi":"https://doi.org/10.1016/j.ajhg.2016.05.009","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2016.05.009","pdf_url":"http://www.cell.com/article/S0002929716301446/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.cell.com/article/S0002929716301446/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089452258","display_name":"Ziv Gan\u2010Or","orcid":"https://orcid.org/0000-0003-0332-234X","observed_orcids":["https://orcid.org/0000-0003-0332-234X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ziv Gan-Or","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090498228","display_name":"Na\u00efma Bouslam","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Naima Bouslam","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047806774","display_name":"Nazha Birouk","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nazha Birouk","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079137598","display_name":"Alexandra Lissouba","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandra Lissouba","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030475375","display_name":"Daniel B. Chambers","orcid":"https://orcid.org/0009-0008-0390-5434","observed_orcids":["https://orcid.org/0009-0008-0390-5434"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Daniel B. Chambers","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043073359","display_name":"Julie V\u00e9ri\u00e8pe","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Julie V\u00e9ri\u00e8pe","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043979424","display_name":"Alaura Androschuk","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alaura Androschuk","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109224618","display_name":"Sandra B. Laurent","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sandra B. Laurent","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080128175","display_name":"Daniel L. Rochefort","orcid":"https://orcid.org/0009-0001-1657-7627","observed_orcids":["https://orcid.org/0009-0001-1657-7627"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Daniel Rochefort","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070319261","display_name":"Dan Spiegelman","orcid":"https://orcid.org/0000-0003-4971-8868","observed_orcids":["https://orcid.org/0000-0003-4971-8868"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dan Spiegelman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051069744","display_name":"Alexandre Dionne Laporte","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexandre Dionne-Laporte","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051626634","display_name":"Anna Szuto","orcid":"https://orcid.org/0000-0001-9140-6193","observed_orcids":["https://orcid.org/0000-0001-9140-6193"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Anna Szuto","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085358449","display_name":"Meijiang Liao","orcid":"https://orcid.org/0009-0007-7795-6026","observed_orcids":["https://orcid.org/0009-0007-7795-6026"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Meijiang Liao","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070811084","display_name":"Denise A. Figlewicz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Denise A. Figlewicz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086162355","display_name":"Ahmed Bouhouche","orcid":"https://orcid.org/0000-0001-5279-8649","observed_orcids":["https://orcid.org/0000-0001-5279-8649"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ahmed Bouhouche","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111540255","display_name":"Ali Benomar","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ali Benomar","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109084472","display_name":"Mohamed Yahyaoui","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mohamed Yahyaoui","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076056910","display_name":"R\u00e9da Ouazzani","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Reda Ouazzani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051248957","display_name":"Grace Yoon","orcid":"https://orcid.org/0000-0002-3450-3293","observed_orcids":["https://orcid.org/0000-0002-3450-3293"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Grace Yoon","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084363443","display_name":"Nicolas Dupr\u00e9","orcid":"https://orcid.org/0000-0001-7270-6115","observed_orcids":["https://orcid.org/0000-0001-7270-6115"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nicolas Dupr\u00e9","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076341883","display_name":"Oksana Suchowersky","orcid":"https://orcid.org/0000-0001-6783-4956","observed_orcids":["https://orcid.org/0000-0001-6783-4956"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Oksana Suchowersky","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083005870","display_name":"Fran\u00e7ois V. Bolduc","orcid":"https://orcid.org/0000-0002-6109-5467","observed_orcids":["https://orcid.org/0000-0002-6109-5467"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francois V. Bolduc","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055407155","display_name":"J. Alex Parker","orcid":"https://orcid.org/0000-0002-3333-2445","observed_orcids":["https://orcid.org/0000-0002-3333-2445"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. Alex Parker","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052174215","display_name":"Patrick A. Dion","orcid":"https://orcid.org/0000-0002-2099-954X","observed_orcids":["https://orcid.org/0000-0002-2099-954X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Patrick A. Dion","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061437247","display_name":"Pierre Drapeau","orcid":"https://orcid.org/0000-0001-9063-0142","observed_orcids":["https://orcid.org/0000-0001-9063-0142"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Pierre Drapeau","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002628021","display_name":"Guy Armand Rouleau","orcid":"https://orcid.org/0000-0001-8403-1418","observed_orcids":["https://orcid.org/0000-0001-8403-1418","https://orcid.org/0000-0002-6665-8572"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Guy A. Rouleau","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5018144726","display_name":"Bouchra Ouled Amar Bencheikh","orcid":"https://orcid.org/0009-0002-4537-9723","observed_orcids":["https://orcid.org/0009-0002-4537-9723","https://orcid.org/0000-0002-3659-941X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bouchra Ouled Amar Bencheikh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5002628021"],"corresponding_institution_ids":[],"apc_list":{"value":5150,"currency":"USD","value_usd":5150},"apc_paid":null,"fwci":0.766,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.68861842,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"98","issue":"6","first_page":"1271","last_page":"1271"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hereditary-spastic-paraplegia","display_name":"hereditary spastic paraplegia","score":0.9390000104904175},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.7889999747276306},{"id":"https://openalex.org/keywords/calpain-1","display_name":"calpain-1","score":0.9729999899864197},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5649999976158142},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.5899999737739563},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.7609999775886536},{"id":"https://openalex.org/keywords/spasticity","display_name":"spasticity","score":0.6309999823570251},{"id":"https://openalex.org/keywords/lower-limb-weakness","display_name":"lower limb weakness","score":0.7229999899864197}],"concepts":[{"id":"https://openalex.org/C2780395223","wikidata":"https://www.wikidata.org/wiki/Q657516","display_name":"Hereditary spastic paraplegia","level":4,"score":0.837178111076355},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7086803913116455},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5350040197372437},{"id":"https://openalex.org/C2779012798","wikidata":"https://www.wikidata.org/wiki/Q117060","display_name":"Spasticity","level":2,"score":0.5268546342849731},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5065973997116089},{"id":"https://openalex.org/C2776195251","wikidata":"https://www.wikidata.org/wiki/Q7573993","display_name":"Spastic","level":3,"score":0.47218599915504456},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.42882102727890015},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.4160710275173187},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3981207609176636},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2813275158405304},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.14144405722618103},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.06033080816268921},{"id":"https://openalex.org/C2779421357","wikidata":"https://www.wikidata.org/wiki/Q210427","display_name":"Cerebral palsy","level":2,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/j.ajhg.2016.05.009","doi":"https://doi.org/10.1016/j.ajhg.2016.05.009","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2016.05.009","pdf_url":"http://www.cell.com/article/S0002929716301446/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4908182","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/4908182","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":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Am J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.1016/j.ajhg.2016.05.009","doi":"https://doi.org/10.1016/j.ajhg.2016.05.009","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ajhg.2016.05.009","pdf_url":"http://www.cell.com/article/S0002929716301446/pdf","source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of Human Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4234279151.pdf"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2956137608","https://openalex.org/W4389436381","https://openalex.org/W3023144973","https://openalex.org/W2905433528","https://openalex.org/W2928130025","https://openalex.org/W2280476176","https://openalex.org/W4285207287","https://openalex.org/W2941302888","https://openalex.org/W4404824279","https://openalex.org/W2323263246"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":4},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2022-05-12T00:00:00"}