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
Hereditary Truncal Dystonia Associated with ANO3 Gene Variant.
Mônaco Gama S et al.
Movement Disorders Clinical Practice, 2025
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Percetti M et al.
Movement Disorders Clinical Practice, 2024
Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant.
Indelicato E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Reply to: "Heterogeneous Phenotypic Evolution in ANO3-Related Dystonia Due to the Recurrent p.Glu510Lys Variant".
Romito LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
ANO3 as a Cause of Early-Onset Chorea Combined with Dystonia: Illustration of Phenotypic Evolution.
Romito LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
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
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
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
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