Browsing Bergen Open Research Archive by Author "Sztromwasser, Pawel Szymon"
Now showing items 1-3 of 3
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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Peer reviewed; Journal article, 2016-07)Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ... -
Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci
Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Dölle, Christian; Sztromwasser, Pawel Szymon; Alves, Guido Werner; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Tzoulis, Charalampos (Journal article; Peer reviewed, 2020-10-01)Parkinson disease (PD) is a complex neurodegenerative disorder influenced by both environmental and genetic factors. While genome wide association studies have identified several susceptibility loci, many causal variants ... -
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema
Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence (Journal article, 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 ...