Homozygous mutations in <i>caveolin‐3</i> cause a severe form of rippling muscle disease
Christian Kubisch(University of Bonn), Matthias Vorgerd(BG University Hospital Bergmannsheil Bochum), Susanne Zahn(University of Bonn), Hartmut Engels, B. Voß(Ruhr University Bochum), Nikola Popović(Ruhr University Bochum), Regina C. Betz(University Hospital Bonn), Benedikt Schoser(Friedrich Baur Stiftung), B. Fricke(Ruhr University Bochum), Jan Aasly(Norwegian University of Science and Technology), Hanns Lochmüller(University of Ottawa), T. Torbergsen(University Hospital of North Norway), Monika von Düring(Ruhr University Bochum), Anja Schroers(Ruhr University Bochum), J.-P. Malin, Hans‐Hilmar Goebel(Johannes Gutenberg University Mainz), Hans‐Michael Meinck(Heidelberg University), Antje Ehrbrecht(University of Bonn), J. M. Schröder(Maastricht University), Thomas Brüning(Institute for Prevention and Occupational Medicine)
Cited by 80
Related Papers
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
|New England Journal of Medicine|2009|2.1k
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
|Nature Genetics|2004|1.6k
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
|The American Journal of Human Genetics|2018|1.2k
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
|Nature Genetics|2006|1.2k
A Potassium Channel Mutation in Neonatal Human Epilepsy
|Science|1998|1.1k