Bjarne Udd

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori et al. · The American Journal of Human Genetics · 2002 · 479 citations · Full text

Developmental Biology, Skeletal Muscle, Genetic Disorder +8

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

Charlotte Fugier, Arnaud F. Klein, Caroline Hammer et al. · Nature Medicine · 2011 · 325 citations

T Tubule Alterations, Medicine, Genetics +6

Distinct muscle imaging patterns in myofibrillar myopathies

Dirk Fischer, Rudolf A. Kley, Katharina Strach et al. · Neurology · 2008 · 252 citations · Full text

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations

Autoimmune Disease, Genetic Disorder, Genetics +8

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth, Frédérique Rau, Yosuke Kokunai et al. · Nature Communications · 2016 · 198 citations · Full text