Associated Papers
Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.
Hisatsune C et al.
The Journal of Biological Chemistry, 2026
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.
Bardakov SN et al.
Journal of Neuromuscular Diseases, 2025
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
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Khalilian S et al.
Human Genomics, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
Ganaraja VH et al.
Global Medical Genetics, 2022
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome.
Borda V et al.
Plos Neglected Tropical Diseases, 2021
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Dionnet E et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Jaka O et al.
Expert Reviews in Molecular Medicine, 2017
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Fanin M et al.
Muscle & Nerve, 2015
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Cotta A et al.
Arquivos De Neuro-psiquiatria, 2014
Skeletal muscle-specific calpain is an intracellular Na+-dependent protease.
Ono Y et al.
The Journal of Biological Chemistry, 2010
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Cobo AM et al.
Human Biology, 2004
Calpainopathy: how broad is the spectrum of clinical variability?
Starling A et al.
Journal of Molecular Neuroscience : Mn, 2003
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
[Muscular dystrophy and calpain].
Sorimachi H
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 2001
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.
Pogoda TV et al.
Human Mutation, 2000
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
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.
Passos-Bueno MR et al.
American Journal of Medical 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
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
Pratt VM et al.
American Journal of Human Genetics, 1997
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
Richard I et al.
Cell, 1995
Limb-girdle Muscular Dystrophies in India: A Review.
Khadilkar SV et al.
Annals of Indian Academy of Neurology, 0