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Long-Term Follow-Up and Evolution of -From a Ballistic to Dystonic Phenotype.

作者信息

Wali Gurusidheshwar M, Wali Gautam, Kumar Kishore R, Sue Carolyn M

机构信息

Neurospecialities Centre Belgaum Karnataka India.

Department of Neurogenetics Kolling Institute, University of Sydney and Royal North Shore Hospital Sydney New South Wales Australia.

出版信息

Mov Disord Clin Pract. 2020 Sep 14;7(8):985-986. doi: 10.1002/mdc3.13069. eCollection 2020 Nov.

DOI:10.1002/mdc3.13069
PMID:34919601
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7604667/
Abstract
摘要

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Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):837-838. doi: 10.4103/aian.AIAN_1012_20. Epub 2021 Mar 27.
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本文引用的文献

1
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.全基因组测序在不同遗传形式肌张力障碍表型的基因诊断中的应用。
Parkinsonism Relat Disord. 2019 Dec;69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7.
2
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.腺苷酸环化酶5相关运动障碍：改善对一种不断演变疾病的临床检测
Mov Disord Clin Pract. 2019 Aug 19;6(7):512-520. doi: 10.1002/mdc3.12816. eCollection 2019 Sep.
3
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.与腺苷酸环化酶5相关的运动障碍：一组儿科患者的发病率、病程及表型变异性
Parkinsonism Relat Disord. 2017 Aug;41:37-43. doi: 10.1016/j.parkreldis.2017.05.004. Epub 2017 May 10.
4
Phenotypic insights into ADCY5-associated disease.对ADCY5相关疾病的表型见解。
Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8.
5
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.与腺苷酸环化酶5相关的运动障碍：更广泛的谱系及基因型-表型相关性
Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.