Associated Papers
Novel Variant in ANO5 Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.
Ćuk M et al.
Genes, 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
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
Muscle biopsy and MRI findings in ANO5-related myopathy.
Holm-Yildiz S et al.
Muscle & Nerve, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.
Bazrafshan S et al.
Cells, 2021
Late-onset myopathies: clinical features and diagnosis.
de Visser M
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
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
Clinical and molecular findings in a cohort of ANO5-related myopathy.
Silva AMS et al.
Annals of Clinical and Translational Neurology, 2019
Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype.
Anandan C et al.
Muscle & Nerve, 2019
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
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-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
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
Linssen WH et al.
European Journal of Neurology, 2013
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
van der Kooi AJ et al.
Neuromuscular Disorders : Nmd, 2013
Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.
Mahajan S et al.
Neurology India, 0