Mutations in GMPPB Presenting with Pseudometabolic Myopathy

Dystrophin protects the sarcolemma from stresses developed during muscle contraction.

Basil J. Petrof, Joseph B. Shrager, Hansell H. Stedman et al. · Proceedings of the National Academy of Sciences · 1993 · 1.5K citations

Medicine, Cell Biology, Molecular Genetics +17

Phenotypic Study in 40 Patients With Dysferlin Gene Mutations

Karine Nguyen, Guillaume Bassez, Martin Krahn et al. · Archives of Neurology · 2007 · 265 citations

Medicine, Genetics, Molecular Genetics +15

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 240 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa

Jean‐Ju Chung, Betsy Navarro, Grigory Krapivinsky et al. · Nature Communications · 2011 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Isabelle Gerin, Benoît Ury, Isabelle Breloy et al. · Nature Communications · 2016 · 143 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11