Associated Papers
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.
Bardakov SN et al.
Journal of Neuromuscular Diseases, 2025
Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G.
Goluba K et al.
Stem Cell Research, 2025
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
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Radziwonik-Fraczyk W et al.
Neurogenetics, 2024
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Aguti S et al.
Cells, 2024
Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.
Zhang L et al.
Human Heredity, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M et al.
Neurogenetics, 2023
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M et al.
Human Mutation, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Lace B et al.
Neurology. Genetics, 2022
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Ozyilmaz B et al.
Neurogenetics, 2022
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
Siavrienė E et al.
Bmc Musculoskeletal Disorders, 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L et al.
Journal of Neuromuscular Diseases, 2021
Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.
Macias A et al.
Frontiers in Neuroscience, 2021
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.
Dionnet E et al.
Human Mutation, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 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
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Multiparametric quantitative MRI assessment of thigh muscles in limb-girdle muscular dystrophy 2A and 2B.
Arrigoni F et al.
Muscle & Nerve, 2018
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Schutz PW et al.
Neuromuscular Disorders : Nmd, 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
Kuhn M et al.
Journal of Neurology, 2016
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.
Danckworth F et al.
Molecular Genetics and Metabolism Reports, 2014
CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
Salem IH et al.
Journal of Human Genetics, 2012
Transcriptional and translational effects of intronic CAPN3 gene mutations.
Nascimbeni AC et al.
Human Mutation, 2010
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Krahn M et al.
Clinical Genetics, 2007
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Stehlíková K et al.
Neuromuscular Disorders : Nmd, 2007
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
Hermanová M et al.
Muscle & Nerve, 2006