Associated Papers
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Rudaks LI et al.
Annals of Clinical and Translational Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Motamed-Gorji N et al.
Antioxidants (basel, Switzerland), 2024
ANO10-Related Spinocerebellar Ataxia: MDSGene Systematic Literature Review and a Romani Case Series.
Milovanović A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
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
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
ANO10 Function in Health and Disease.
Chrysanthou A et al.
Cerebellum (london, England), 2023
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia.
Massey S et al.
Neurology. Genetics, 2023
Noted Tension Headache, Anxiety, and Depression in a Chinese Patient with Spinocerebellar Ataxia, Autosomal Recessive 10 Caused by a Novel Anoctamin 10 Mutation.
Ma X et al.
Journal of Translational Internal Medicine, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Aida I et al.
Internal Medicine (tokyo, Japan), 2022
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
Thomas Q et al.
Journal of Medical Genetics, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL et al.
Translational Neurodegeneration, 2021
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.
Nieto A et al.
Neurocase, 2019
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Kang C et al.
Cerebellum (london, England), 2019
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L et al.
Journal of Neurology, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Behjati S et al.
Nature Communications, 2017
NGS-based molecular diagnosis of hereditary ataxia is cost-efficient: an illustrative family.
Stubbe C et al.
Qjm : Monthly Journal of the Association of Physicians, 2016
Autosomal recessive spinocerebellar ataxias in Japan.
Tanaka F et al.
Rinsho Shinkeigaku = Clinical Neurology, 2016
Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
Chamard L et al.
European Neurology, 2016
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene.
Minnerop M et al.
Jama Neurology, 2015
Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply.
Koenig M et al.
Jama Neurology, 2015
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A et al.
Journal of Neurology, 2014
Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Renaud M et al.
Jama Neurology, 2014
[Clinical features of autosomal dominant spinocerebellar ataxias genetically unclassified into any known triplet-repeat diseases].
Aoki K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2001
Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship.
Bogdanova-Mihaylova P et al.
Movement Disorders Clinical Practice, 0