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