Associated Papers
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
Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.
Barthélémy F et al.
Frontiers in Cell and Developmental Biology, 2022
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM1_ESM.xlsx › Arkusz1
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
Klinge L et al.
Muscle & Nerve, 2010
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Screening of the CAPN3 gene in patients with possible LGMD2A.
Krahn M et al.
Clinical Genetics, 2006
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].
Urtasun M et al.
Medicina Clinica, 1998
[Alterations in functional proteins. Calpaine-3 deficiency].
López de Munain A et al.
Revista De Neurologia, 0
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