Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.
Kale MY et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Maternal synapsin autoantibodies are associated with neurodevelopmental delay.
Bünger I et al.
Frontiers in Immunology, 2023
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
Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S et al.
Muscle & Nerve, 2021
Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies.
Croissant C et al.
International Journal of Molecular Sciences, 2021
ANO5 ensures trafficking of annexins in wounded myofibers.
Foltz SJ et al.
The Journal of Cell Biology, 2021
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
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
Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.
Pagola-Lorz I et al.
Orphanet Journal of Rare Diseases, 2019
The Limb-Girdle Muscular Dystrophies.
Wicklund MP
Continuum (minneapolis, Minn.), 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.
Clinical 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
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.
Xu J et al.
The Journal of Pathology. Clinical Research, 2018
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
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Monies D et al.
Human Genomics, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
Clinical and genetic features of anoctaminopathy in Saudi Arabia.
Bohlega S et al.
Neurosciences (riyadh, Saudi Arabia), 2015
Dilated cardiomyopathy in patients with mutations in anoctamin 5.
Wahbi K et al.
International Journal of Cardiology, 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
LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease.
Witting N et al.
Muscle & Nerve, 2012
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
Schessl J et al.
Muscle & Nerve, 2012
Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
Bouquet F et al.
Revue Neurologique, 2012