Associated Papers
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
de Bruyn A et al.
Brain : a Journal of Neurology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A et al.
Scientific Reports, 2019
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
Variomics screen identifies the re-entrant loop of the calcium-activated chloride channel ANO1 that facilitates channel activation.
Bill A et al.
The Journal of Biological Chemistry, 2015
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A et al.
Human Mutation, 2013
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
Marconi C et al.
European Journal of Human Genetics : Ejhg, 2013
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
Magri F et al.
Neuromuscular Disorders : Nmd, 2012
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 2012
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