{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["37(8)"],"submitter":["Schoggl J"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pagination":["1774-1776"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9544690"],"repository":["biostudies-literature"],"pubmed_title":["A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia."],"pmcid":["PMC9544690"],"pubmed_authors":["Freilinger M","Boltshauser E","Schmidt WM","Siegert S","Schoggl J"],"additional_accession":[]},"is_claimable":false,"name":"A De Novo Missense NPTX1 Variant in an Individual with Infantile-Onset Cerebellar Ataxia.","description":null,"dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-19T04:47:53.186Z","creation":"2025-04-19T04:47:53.186Z"},"accession":"S-EPMC9544690","cross_references":{"pubmed":["35560436"],"doi":["10.1002/mds.29054"]}}