Ontology highlight
ABSTRACT:
SUBMITTER: Ignatius E
PROVIDER: S-EPMC7323479 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Ignatius Erika E Isohanni Pirjo P Pohjanpelto Max M Lahermo Päivi P Ojanen Simo S Brilhante Virginia V Palin Eino E Suomalainen Anu A Lönnqvist Tuula T Carroll Christopher J CJ
Neurology. Genetics 20200605 4
<h4>Objective</h4>To characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland.<h4>Methods</h4>This study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening Array MD-24 v.2.0) was used to search for copy number variation undetectable ...[more]