Associated Papers
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM et al.
Annals of Clinical and Translational Neurology, 2025
40237364 (PubMed )
Supplement: ACN3-12-1179-s001.pdf
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A et al.
Neurology. Genetics, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle.
Huang Y et al.
Human Molecular Genetics, 2008
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
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