Associated Papers
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength.
Cheema I et al.
Orphanet Journal of Rare Diseases, 2025
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
Anwar S et al.
Biomolecules, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) in Individuals from a Semiarid Region of Brazil.
Motta IA et al.
Current Genomics, 2023
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S et al.
Neurogenetics, 2023
Dysferlinopathies: Clinical and genetic variability.
Ivanova A et al.
Clinical Genetics, 2022
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.
Contreras-Cubas C et al.
Bmc Medical Genomics, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G et al.
European Journal of Neurology, 2021
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2018
Toward an objective measure of functional disability in dysferlinopathy.
Woudt L et al.
Muscle & Nerve, 2016
RETRACTED: Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy.
Azakir BA et al.
Science Translational Medicine, 2014
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Schmidt WM et al.
Plos Genetics, 2011
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Gallardo E et al.
Plos One, 2011
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients.
Au CG et al.
Acta Neuropathologica, 2008
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