• 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 (Journal article; Peer reviewed, 2016)
      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 ...
    • LIVE@Home.Path--innovating the clinical pathway for home-dwelling people with dementia and their caregivers: Study protocol for a mixed-method, stepped-wedge, randomized controlled trial 

      Husebø, Bettina; Allore, Heather; Achterberg, Wilco; Angeles, Renira Corinne; Ballard, Clive; Bruvik, Frøydis Kristine; Fæø, Stein Erik; Gedde, Marie H.; Hillestad, Eirin; Jacobsen, Frode F.; Kirkevold, Øyvind; Kjerstad, Egil; Kjome, Reidun Lisbet Skeide; Mannseth, Janne; Naik, Mala; Nouchi, Rui; Puaschitz, Nathalie; Samdal, Rune; Tranvåg, Oscar; Tzoulis, Charalampos; Vahia, Ipsit Vihang; Vislapuu, Maarja; Berge, Line Iden (Peer reviewed; Journal article, 2020)
      Background The global health challenge of dementia is exceptional in size, cost and impact. It is the only top ten cause of death that cannot be prevented, cured or substantially slowed, leaving disease management, caregiver ...
    • The STRAT-PARK cohort: A personalized initiative to stratify Parkinson's disease 

      Stige, Kjersti Eline; Kverneng, Simon Ulvenes; Sharma, Soumya; Skeie, Geir Olve; Sheard, Erika; Søgnen, Mona; Af Geijerstam, Solveig; Vetås, Therese; Wahlvåg, Anne Grete; Berven, Haakon; Buch, Sagar; Reese, David; Babiker, Dina; Mahdi, Yekta; Wade, Trevor; Miranda, Gala Prado; Ganguly, Jacky; Tamilselvam, Yokhesh Krishnasamy; Chai, Jia Ren; Bansal, Saurabh; Aur, Dorian; Soltani, Sima; Adams, Scott; Dölle, Christian; Dick, Fiona; Berntsen, Erik Magnus; Grüner, Renate; Brekke, Njål; Riemer, Frank; Goa, Pål Erik; Haugarvoll, Kristoffer; Haacke, E. Mark; Jog, Mandar; Tzoulis, Charalampos (Peer reviewed; Journal article, 2024)
      The STRAT-PARK initiative aims to provide a platform for stratifying Parkinson’s disease (PD) into biological subtypes, using a bottom-up, multidisciplinary biomarker-based and data-driven approach. PD is a heterogeneous ...