Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Ono Y et al.
The Journal of Biological Chemistry, 2010
20460380 (PubMed )
Supplement: supp_M110.126946_jbc.M110.126946-1.pdf
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A et al.
Brain : a Journal of Neurology, 2005
[Muscular dystrophy and calpain].
Sorimachi H
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2001
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A.
Sorimachi H et al.
Methods in Molecular Biology (clifton, N.j.), 2000
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Sorimachi H et al.
Advances in Experimental Medicine and Biology, 2000
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
Ono Y et al.
The Journal of Biological Chemistry, 1998
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Richard I et al.
Cell, 1995
Select a paper to view details