Associated Papers
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Amaro A et al.
Brain : a Journal of Neurology, 2025
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
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
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
25135358 (PubMed )
Supplement: s12883-014-0154-7-S2.docx
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Moreira ES et al.
Journal of Medical Genetics, 2003
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