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
Clinical and Genetic Characterization of CAPN3-Related Limb-Girdle Muscular Dystrophies in an Egyptian Cohort.
Abdel Aleem AF et al.
Pediatric Neurology, 2026
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A.
Wang G et al.
Neurology. Genetics, 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
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
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
Zheng J et al.
Experimental and Therapeutic Medicine, 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
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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
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
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
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999