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