Associated Papers
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
Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.
Kale MY et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Underlying diseases in sporadic presentation of high creatine kinase levels in girls.
Lee T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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
Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.
Rekik S et al.
Journal of Molecular Neuroscience : Mn, 2019
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Seong MW et al.
Clinical Genetics, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
Ojima K et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2014
Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
Hauerslev S et al.
Bmc Musculoskeletal Disorders, 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 lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.
Keira Y et al.
Neuroscience Research, 2007
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
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy.
Chae J et al.
Neuromuscular Disorders : Nmd, 2001
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
Minami N et al.
Journal of the Neurological Sciences, 1999