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
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Valls A et al.
Muscle & Nerve, 2024
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2023
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
35135626 (PubMed )
Supplement: 40478_2022_1320_MOESM1_ESM.pdf
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
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Toral-Ojeda I et al.
Expert Reviews in Molecular Medicine, 2016
Neurogenetic disorders in the Basque population.
Martí Massó JF et al.
Annals of Human Genetics, 2015
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.
Gómez-González C et al.
Annals of Indian Academy of Neurology, 0
Select a paper to view details