Associated Papers
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.
Rahmuni Y et al.
Molecular Genetics & Genomic Medicine, 2026
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.
D'Este G et al.
International Journal of Molecular Sciences, 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
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.
Quilacio JMS et al.
Cureus, 2022
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
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A et al.
Journal of Neurology, 2020
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.
Dorobek M et al.
Genetic Testing and Molecular Biomarkers, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Hauerslev S et al.
Bmc Musculoskeletal Disorders, 2012
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Fanin M et al.
Journal of Medical Genetics, 2007
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Stehlíková K et al.
Neuromuscular Disorders : Nmd, 2007
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Fanin M et al.
Journal of Medical Genetics, 2007
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients.
Hermanová M et al.
Muscle & Nerve, 2006
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
Novel mutations in the calpain 3 gene in Germany.
Todorova A et al.
Clinical Genetics, 2005
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
[Girdle muscular dystrophy: a sporadic case with late onset].
Sarsa A et al.
Neurologia (barcelona, Spain), 1990