• A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome 

      Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara Louise; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Hol, Johanna; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldsen, Guttorm; Selmer, Kaja Kristine (Peer reviewed; Journal article, 2021)
      Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The ...
    • Novel UCHL1 mutations reveal new insights into ubiquitin processing 

      Rydning, Siri Lynne; Backe, Paul Hoff; Sousa, Mirta; Iqbal, Zafar; Øye, Ane-Marte; Sheng, Ying; Yang, Mingyi; Lin, Xiaolin; Slupphaug, Geir; Nordenmark, Tonje Haug; Vigeland, Magnus Dehli; Bjørås, Magnar; Tallaksen, Chantal; Selmer, Kaja Kristine (Journal article; Peer reviewed, 2017)
      Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 has been implicated in early-onset progressive neurodegeneration (MIM no. 615491), so far only in one family. In this study a second family is characterized, ...