• 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 ...
    • European consensus on the concepts and measurement of the pathophysiological neuromuscular responses to passive muscle stretch 

      van den Noort, Josien C.; Bar-On, Lynn; Aertbeliën, Erwin; Bonikowski, Marcin; Brændvik, Siri Merete; Broström, Eva Weidenhielm; Buizer, Annemieke I.; Burridge, Jane Helena; van Campenhout, Anja; Dan, Bernard; Fleuren, Judith F.M.; Grunt, Sebastian; Heinen, Florian; Horemans, Herwin L.D.; Jansen, C.; Kranzl, Andreas; Krautwurst, Britta K.; van der Krogt, Marjolein Margaretha; Lerma Lara, Sergio; Lidbeck, Cecilia M.; Lin, Jean-Pierre; Martinez, Ivette; Meskers, Carel G.; Metaxiotis, Dimitrios; Molenaers, Guy; Patikas, Dimitrios A.; Rémy-Néris, Olivier; Roeleveld, Karin; Shortland, Adam Peter; Sikkens, Jonne J.; Sloot, Lizeth; Vermeulen, R. Jeroen; Wimmer, Cornelius; Schröder, Alexandra Sebastian; Schless, Simon Henri; Becher, Jules Guilhelmus; Desloovere, Kaat; Harlaar, Jaap (Journal article, 2017)
      Background and purpose To support clinical decision-making in central neurological disorders, a physical examination is used to assess responses to passive muscle stretch. However, what exactly is being assessed is expressed ...
    • The causal role of smoking on the risk of headache. A Mendelian randomization analysis in the HUNT Study 

      Johnsen, Marianne Bakke; Winsvold, Bendik K S; Børte, Sigrid; Vie, Gunnhild Åberge; Pedersen, Linda Margareth; Storheim, Kjersti; Skorpen, Frank; Hagen, Knut; Bjørngaard, Johan Håkon; Åsvold, Bjørn Olav; Zwart, John-Anker (Journal article; Peer reviewed, 2018)
      Background and purpose Headache has been associated with various lifestyle and psychosocial factors, one of which is smoking. The aim of the present study was to investigate whether the association between smoking intensity ...