The myotonic dystrophies: molecular, clinical, and therapeutic challenges
Bjarne Udd(Folkhälsans Forskningscentrum), Ralf Krahe(University of Helsinki)
Cited by 487
Related Papers
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
|The American Journal of Human Genetics|2002|484
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
|Nature Medicine|2011|333
Distinct muscle imaging patterns in myofibrillar myopathies
|Neurology|2008|261
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone
|Nature Genetics|2005|241
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
|Nature Communications|2016|210