Blar i Faculty of Medicine på forfatter "Gjerde, Ivar Otto"

Viser treff 1-3 av 3

    • Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report 

      Tzoulis, Charalampos; Schwarzlmüller, Thomas; Søfteland, Eirik; Neckelmann, Gesche; Biermann, Martin; Haroche, Julien; Straume, Oddbjørn; Gjerde, Ivar Otto; Vintermyr, Olav Karsten (Peer reviewed; Journal article, 2015-04-30)
      Background: Erdheim-Chester disease is a rare histiocytosis characterized by multi-systemic organ involvement. Immune-modulating agents such as interferon-alpha have limited success and the disorder is progressive and ...

    • 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 ...

    • Progressive striatal necrosis associated with anti-NMDA receptor antibodies 

      Tzoulis, Charalampos; Vedeler, Christian A.; Haugen, Mette; Storstein, Anette; Tran, Gia Tuong Thi; Gjerde, Ivar Otto; Biermann, Martin; Schwarzlmüller, Thomas; Bindoff, Laurence (Peer reviewed; Journal article, 2013-05-31)
      Background: We report a case of childhood onset, generalized dystonia due to slowly progressive bilateral striatal necrosis associated with anti-N-methyl-D-aspartate receptor (NMDAR) antibodies. This clinical phenotype has ...