A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia
Author:
Funder
Ministry of Education and Research
Possehl-Stiftung
German Ministry of Education and Research
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference9 articles.
1. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis;Charlesworth;Am. J. Hum. Genet.,2012
2. Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families;Ma;Mov. Disord.,2015
3. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia;Miltgen;Mov. Disord.,2016
4. Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls;Zech;Mov. Disord.,2014
5. Update on the Genetics of Dystonia;Lohmann;Curr Neurol Neurosci Rep,2017
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1. The Clinical Spectrum of ANO3—Report of a New Family and Literature Review;Movement Disorders Clinical Practice;2024-01-29
2. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia;Brain;2023-12-11
3. A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor;Journal of Human Genetics;2022-09-27
4. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing;Parkinsonism & Related Disorders;2022-09
5. A Clinical Approach to the Patients with Combination of Dystonia and Myoclonus;Annals of Movement Disorders;2022-05
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