A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus-Reference-Cited by-同舟云学术

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A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus

Published:2019-04-09 Issue:6 Volume:34 Page:923-924
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Geoghegan Aisling R.¹,Al Hussona Mariam²,Beauchamp Nick J.³,Hutchinson Michael²^ORCID,Sean O'Riordan MB²,Lynch Tim⁴,Webb David¹⁵

Affiliation:

1. Tallaght University Hospital Tallaght, Dublin 24 Ireland

2. St Vincent's University Hospital Donnybrook, Dublin Ireland

3. Sheffield Diagnostic Genetics Services, Sheffield Children's NHS Foundation Trust Sheffield United Kingdom

4. Mater Misericordiae University Hospital Dublin Ireland

5. Our Lady's Children's Hospital Crumlin, Dublin Ireland

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.27694

Reference4 articles.

1. Inherited Isolated Dystonia: Clinical Genetics and Gene Function

2. Mutations in GNAL cause primary torsion dystonia

3. De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patient

4. Genetics in dystonia

Cited by 9 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. Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations;Movement Disorders Clinical Practice;2024-06-08

2. Inherited Dystonias;Reference Module in Neuroscience and Biobehavioral Psychology;2024

3. Disruption of striatal dopaminergic pathway: A new plot twist in dystonia genetic story;Revue Neurologique;2022-10

4. Highlighting the Dystonic Phenotype Related to GNAO1 ;Movement Disorders;2022-06-20

5. A Clinical Approach to the Patients with Combination of Dystonia and Myoclonus;Annals of Movement Disorders;2022-05

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