Browsing Bergen Open Research Archive by Author "Vissing, John"
Now showing items 1-3 of 3
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Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy, Lindsay B.; Schreiber-Katz, Olivia; Rafferty, Karen; Robertson, Agata; Topf, Ana; Willis, Tracey A.; Heidemann, Marcel; Thiele, Simone; Bindoff, Laurence; Laurent, Jean-Pierre; Lochmüller, Hanns; Mathews, Katherine; Mitchell, Claudia; Stevenson, John Herbert; Vissing, John; Woods, Lacey; Walter, Maggie C.; Straub, Volker (Journal article; Peer reviewed, 2020-04)Objective The Global FKRP Registry is a database for individuals with conditions caused by mutations in the Fukutin‐Related Protein (FKRP) gene: limb girdle muscular dystrophy R9 (LGMDR9, formerly LGMD2I) and congenital ... -
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study
Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence Albert; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas (Journal article; Peer reviewed, 2023)Background: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains ... -
Zilucoplan: An Investigational Complement C5 Inhibitor for the Treatment of Acetylcholine Receptor Autoantibody–Positive Generalized Myasthenia Gravis
Howard, James F.; Vissing, John; Gilhus, Nils Erik; Leite, Maria Isabel; Utsugisawa, Kimiaki; Duda, Petra W.; Farzaneh-Far, Ramin; Murai, Hiroyuki; Wiendl, Heinz (Journal article; Peer reviewed, 2021)Generalized myasthenia gravis (gMG) is an autoimmune disorder in which pathogenic autoantibodies damage the neuromuscular junction, causing disabling or life-threatening muscle weakness. Most treatments nonspecifically ...