Associated Papers
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 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
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Zhong H et al.
Journal of Medical Genetics, 2021
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
Vissing J et al.
Human Mutation, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A et al.
Journal of Neurology, 2020
Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3.
Viloria-Alebesque A et al.
Epilepsy & Behavior Case Reports, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
Natural history of LGMD2A for delineating outcome measures in clinical trials.
Richard I et al.
Annals of Clinical and Translational Neurology, 2016
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Fanin M et al.
Muscle & Nerve, 2015
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.
Blázquez L et al.
Human Mutation, 2013
Diagnostic strategy for limb-girdle muscular dystrophies.
Eymard B et al.
Revue Neurologique, 2012
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Kramerova I et al.
Human Molecular Genetics, 2012
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
Sacconi S et al.
Journal of Medical Genetics, 2012
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Duno M et al.
European Journal of Human Genetics : Ejhg, 2008
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Blázquez L et al.
Neurogenetics, 2008
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Kramerova I et al.
Biochimica Et Biophysica Acta, 2007
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Krahn M et al.
Annals of Neurology, 2006
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
Limb-girdle Muscular Dystrophies in India: A Review.
Khadilkar SV et al.
Annals of Indian Academy of Neurology, 0