Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Percetti M et al.
Movement Disorders Clinical Practice, 2024
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor.
Aihara Y et al.
Journal of Human Genetics, 2023
Huntington disease-like phenotype in a patient with ANO3 mutation.
Koya Kutty S et al.
Parkinsonism & Related Disorders, 2021
"Huntington disease-like phenotype in a patient with ANO3 mutation" Expert commentary.
Danek A
Parkinsonism & Related Disorders, 2021
Isolated dystonia: clinical and genetic updates.
Domingo A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia.
Delamarre A et al.
Parkinsonism & Related Disorders, 2019
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing.
Li S et al.
Frontiers in Neurology, 2019
Youngest presenting patient with dystonia 24 and review of the literature.
Nelin S et al.
Clinical Case Reports, 2018
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia.
Yoo HS et al.
Journal of Clinical Neurology (seoul, Korea), 2018
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP et al.
Nucleic Acids Research, 2018
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
Charlesworth G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016