Associated Papers
The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
Percetti M et al.
Movement Disorders Clinical Practice, 2024
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
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
30284773 (PubMed )
Supplement: jcn-14-596-s002.pdf
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Blackburn PR et al.
Bmc Medical Genetics, 2016
Mutations in CIZ1 are not a major cause for dystonia in Germany.
Dufke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
Ma LY et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Recent advances in the genetics of dystonia.
Xiao J et al.
Current Neurology and Neuroscience Reports, 2014
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
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