Myoclonus‐Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite-Reference-Cited by-同舟云学术

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Myoclonus‐Dystonia Presentation of ATM Gene Mutation in a Canadian Mennonite

Published:2021-12 Issue:2 Volume:9 Page:264-267
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Ganguly Jacky¹^ORCID,Bernaola Mellany Tuesta¹,Goobie Sharan²,Prasad Asuri³,Jog Mandar

Affiliation:

1. Movement Disorder Centre, London Health Sciences Centre The University of Western Ontario London Ontario Canada

2. Division of Medical Genetics Dalhousie University Halifax Nova Scotia Canada

3. Department of Pediatrics, London Health Sciences Centre The University of Western Ontario London Ontario Canada

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13369

Reference14 articles.

1. Ataxia‐telangiectasia: A review of clinical features and molecular pathology

2. Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment

3. Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

4. Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia

5. Myoclonus in Ataxia–Telangiectasia

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Myoclonus: an update;Current Opinion in Neurology;2024-05-24

2. The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list;Parkinsonism & Related Disorders;2023-12

3. Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review;Frontiers in Pediatrics;2023-03-15

4. Skin Conditions and Movement Disorders: Hiding in Plain Sight;Movement Disorders Clinical Practice;2022-03-24

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