Associated Papers
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 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
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR et al.
Journal of Medical Genetics, 2023
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
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
ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies.
Christiansen J et al.
Genes & Diseases, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Genome-wide association study of cardiac troponin I in the general population.
Moksnes MR et al.
Human Molecular Genetics, 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
Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.
Sánchez-Tejerina D et al.
Neurology, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
ANO5 ensures trafficking of annexins in wounded myofibers.
Foltz SJ et al.
The Journal of Cell Biology, 2021
Whole-body muscle magnetic resonance imaging in patients with muscle symptoms: incidental findings and outcomes.
Claeys KG et al.
European Journal of Neurology, 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
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
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vázquez J et al.
Journal of Neuromuscular Diseases, 2020
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
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Vihola A et al.
Neuropathology and Applied Neurobiology, 2018
Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.
Papadopoulos C et al.
Muscle & Nerve, 2017
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
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
Griffin DA et al.
Human Molecular Genetics, 2016
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
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).
Mahmood OA et al.
Molecular Medicine Reports, 2014
Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.
Milone M et al.
Neuromuscular Disorders : Nmd, 2012
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001