Browsing Department of Clinical Medicine by Subject "Ataxia"
Now showing items 1-2 of 2
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing (BioMed Central, 2013-01-03)Background: Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing and the characterization of clinical features and brain MRI in two ...Journal article
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema (Springer, 2017-02)We identified PNKP mutations in a Norwegian woman with AOA. This patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and ...Journal article