Associated Papers
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 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
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S et al.
Muscle & Nerve, 2021
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 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
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European Journal of Neurology, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Jarmula A et al.
Scientific Reports, 2019
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.
Cai S et al.
Neuromuscular Disorders : Nmd, 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
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells.
Chandra G et al.
Cell Death Discovery, 2019
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2018
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.
Hu B et al.
Medicine, 2018
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Vihola A et al.
Neuropathology and Applied Neurobiology, 2018
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
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
Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
Blackburn PR et al.
Muscle & Nerve, 2017
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
Kadoya M et al.
Neuromuscular Disorders : Nmd, 2017
Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
Ylikallio E et al.
Journal of Neuromuscular Diseases, 2016
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy.
Kuhn M et al.
Journal of Neurology, 2016
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.
Lahoria R et al.
Muscle & Nerve, 2014
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
Eosinophils in hereditary and inflammatory myopathies.
Schröder T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
Witting N et al.
Journal of Neurology, 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
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5.
Monjaret F et al.
Human Gene Therapy. Clinical Development, 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
Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
Mahjneh I et al.
Neuromuscular Disorders : Nmd, 2012
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
Penttilä S et al.
Neurology, 2012