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
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
Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy.
Lertsakulbunlue S et al.
Case Reports in Neurological Medicine, 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
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
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
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
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
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
Kuhn M et al.
Journal of Neurology, 2016
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.
de Morrée A et al.
Plos One, 2010
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
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005