Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
[Summary of the first Hungarian experiences with prenatal chromosomal microarray analysis and whole-exome sequencing].
Pikó H et al.
Orvosi Hetilap, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
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
Hypertrophic Cardiomyopathy Complicated by Post-COVID-19 Myopericarditis in Patient with ANO5-Related Distal Myopathy.
Blagova O et al.
Genes, 2023
Genomic Complexity Predicts Resistance to Endocrine Therapy and CDK4/6 Inhibition in Hormone Receptor-Positive (HR+)/HER2-Negative Metastatic Breast Cancer.
Davis AA et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.
Christiansen J et al.
Genes & Diseases, 2022
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
Soontrapa P et al.
Genes, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S et al.
Muscle & Nerve, 2021
Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution.
Tamura N et al.
The Journal of Biological Chemistry, 2021
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
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
Bazrafshan S et al.
Cells, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
Seguí F et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Panadés-de Oliveira L et al.
Journal of Neurology, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vázquez J et al.
Journal of Neuromuscular Diseases, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Silva AMS et al.
Annals of Clinical and Translational Neurology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype.
Anandan C et al.
Muscle & Nerve, 2019
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
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
Rhabdomyolysis featuring muscular dystrophies.
Lahoria R et al.
Journal of the Neurological Sciences, 2016
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
ANO5-muscular dystrophy: clinical, pathological and molecular findings.
Liewluck T et al.
European Journal of Neurology, 2013
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
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
Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?
Duran C et al.
Acta Pharmacologica Sinica, 2011
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V et al.
American Journal of Human Genetics, 2010