Associated Papers
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
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.
Valls A et al.
Cells, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Valls A et al.
Muscle & Nerve, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S et al.
Frontiers in Genetics, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
Rico A et al.
Orphanet Journal of Rare Diseases, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M et al.
Neurogenetics, 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
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.
De Paepe B et al.
Acta Neurologica Belgica, 2021
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion.
Spinazzi M et al.
Neuromuscular Disorders : Nmd, 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
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Casas-Fraile L et al.
Orphanet Journal of Rare Diseases, 2020
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.
Clinical Genetics, 2019
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
FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.
Jaka O et al.
Expert Reviews in Molecular Medicine, 2017
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Blázquez L et al.
Neurogenetics, 2008
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005