Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation-Reference-Cited by-同舟云学术

Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation

Published:2016-11-08 Issue:1 Volume:32 Page:162-165
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Eggink Hendriekje¹,van Egmond Martje E.¹,Verschuuren-Bemelmans Corien C.²,Schönherr Marleen C.³,de Koning Tom J.²,Oterdoom D.L. Marinus⁴,van Dijk J. Marc C.⁴,Tijssen Marina A.J.¹

Affiliation:

1. Department of Neurology; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

2. Department of Genetics; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

3. Department of Rehabilitation; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

4. Department of Neurosurgery; University Medical Center Groningen, University of Groningen; Groningen The Netherlands

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.26842/fullpdf

Reference9 articles.

1. The syndrome of deafness-dystonia: clinical and genetic heterogeneity;Kojovic;Mov Disord,2013

2. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm;Egmond;J Neurol Neurosurg Psychiatry,2015

3. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases;Neveling;Hum Mutat,2013

4. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome;Baraitser;J Med Genet,1988

5. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases;Verloes;Eur J Hum Genet,2015

Cited by 13 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. Classification of human actin pathological variants usingC. elegansCRISPR-generated models;2024-07-22

2. The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis;Journal of the Neurological Sciences;2024-04

3. Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia;Annals of Indian Academy of Neurology;2023

4. Dystonia‐Deafness Syndrome Response to Subthalamic Nucleus Stimulation;Movement Disorders Clinical Practice;2022-10-04

5. Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature;European Journal of Medical Genetics;2022-09