Associated Papers
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Amaro A et al.
Brain : a Journal of Neurology, 2025
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Murphy LB et al.
Annals of Clinical and Translational Neurology, 2020
32342672 (PubMed )
Supplement: ACN3-7-757-s001.pdf
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx
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
[Clinical-genetic analysis of limb-girdle muscular dystrophy 2 type I].
Ryzhkova OP et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2012
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.
Gouveia TL et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2006
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer D et al.
Journal of Neurology, 2005
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