Bjarne Udd

The Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

Stephan Lange, Fengqing Xiang, Andrey R Yakovenko et al. · Science · 2005 · 585 citations

Nuclear Srf, Molecular Regulation, Protein Turnover +19

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Volker Straub, Alexander P. Murphy, Bjarne Udd et al. · Neuromuscular Disorders · 2018 · 372 citations · Full text

Urology, Kinesiology, Enmc International Workshop +8

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen et al. · The American Journal of Human Genetics · 2005 · 305 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +10

EFNS guidelines for the use of intravenous immunoglobulin in treatment of neurological diseases

Irina Elovaara, Slobodan Apostolski, P. van Doorn et al. · European Journal of Neurology · 2008 · 286 citations · Full text

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

J. Sarparanta, Per Harald Jonson, Christelle Golzio et al. · Nature Genetics · 2012 · 272 citations

Genome Instability, Skeletal Muscle, Genetics +7