{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["4(1)"],"submitter":["Kocoglu C"],"journal":["Neurology. Genetics"],"pagination":["e218"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5773845"],"repository":["biostudies-literature"],"pubmed_title":["Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families."],"pmcid":["PMC5773845"],"pubmed_authors":["Kahraman-Koytak P","Caglayan AO","Basak AN","Kocoglu C","Gundogdu A","Kocaman G","Uluc K","Kiziltan G","Bilguvar K","Vural A"],"additional_accession":[]},"is_claimable":false,"name":"Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families.","description":null,"dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Feb","modification":"2025-04-29T10:03:21.447Z","creation":"2025-04-06T19:21:37.278Z"},"accession":"S-EPMC5773845","cross_references":{"pubmed":["29379883"],"doi":["10.1212/NXG.0000000000000218"]}}