Associated Papers
ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.
Christiansen J et al.
Genes & Diseases, 2022
Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.
De Paepe B et al.
Acta Neurologica Belgica, 2021
A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.
Yang W et al.
Frontiers in Cell and Developmental Biology, 2021
34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3
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_MOESM2_ESM.xlsx › together
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Wahbi K et al.
International Journal of Cardiology, 2013
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
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A et al.
Neuromuscular Disorders : Nmd, 2012
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