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
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.
Pegoraro V et al.
Genes, 2021
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A et al.
Journal of Neurology, 2020
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
Fanin M et al.
European Journal of Human Genetics : Ejhg, 2009
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Garnham CP et al.
Biochemistry, 2009
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Fanin M et al.
Journal of Medical Genetics, 2007
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.
Fanin M et al.
Journal of Medical Genetics, 2007
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
Jenne DE et al.
Biological Chemistry, 2005
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Fanin M et al.
The American Journal of Pathology, 2003
Clinical variability in calpainopathy: what makes the difference?
de Paula F et al.
European Journal of Human Genetics : Ejhg, 2002
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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