Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2018 Oct 27

PMID 30363071

Citations 8

Authors

Jan Necpal

Michael Zech

Matej Skorvanek

Petra Havrankova

Anna Fecikova

Juliane Winkelmann

Robert Jech

Affiliations

Soon will be listed here.

Abstract

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312564-sup-v001_1.htm.

Citing Articles

Late-Onset Ataxia-Telangiectasia Presenting With Dystonia and Tremor: The Use of Nanopore Long-Read Sequencing Solving the Variant Phase.

Jin B, Yoon J, Kim A, Moon J, Kim H Neurol Genet. 2024; 10(2):e200141.

PMID: 38854973 PMC: 11157422. DOI: 10.1212/NXG.0000000000200141.

Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.

Liu Z, Wang Y, Xu Y Front Pediatr. 2023; 11:975696.

PMID: 37009283 PMC: 10050558. DOI: 10.3389/fped.2023.975696.

Skin Conditions and Movement Disorders: Hiding in Plain Sight.

Kulcsarova K, Baloghova J, Necpal J, Skorvanek M Mov Disord Clin Pract. 2022; 9(5):566-583.

PMID: 35844274 PMC: 9274368. DOI: 10.1002/mdc3.13436.

The natural history of ataxia-telangiectasia (A-T): A systematic review.

Petley E, Yule A, Alexander S, Ojha S, Whitehouse W PLoS One. 2022; 17(3):e0264177.

PMID: 35290391 PMC: 9049793. DOI: 10.1371/journal.pone.0264177.

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Shad T, Yazdani R, Amirifar P, Delavari S, Heidarzadeh Arani M, Mahdaviani S Front Immunol. 2022; 12:779502.

PMID: 35095854 PMC: 8795590. DOI: 10.3389/fimmu.2021.779502.

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