Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype-Reference-Cited by-同舟云学术

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Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype

Published:2016-02 Issue: Volume:23 Page:66-71
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Carecchio Miryam,Panteghini Celeste,Reale Chiara,Barzaghi Chiara,Monti Valentina,Romito Luigi,Sasanelli Francesco,Garavaglia Barbara

Funder

Telethon Network of Genetic Biobanks

Eurobiobank Network

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference16 articles.

1. Mutations in GNAL cause primary torsion dystonia;Fuchs;Nat. Genet.,2013

2. Role of Gα(olf) in familial and sporadic adult-onset primary dystonia;Vemula;Hum. Mol. Genet.,2013

3. Mutation screening of GNAL gene in patients with primary dystonia from Northeast China;Miao;Park. Relat. Disord.,2013

4. Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites;Saunders-Pullman;Mov. Disord.,2014

5. Novel GNAL mutations in two German patients with sporadic dystonia;Ziegan;Mov. Disord.,2014

Cited by 38 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. Conditional Knockout of Striatal Gnal Produces Dystonia-like Motor Phenotypes;2024-08-28

2. 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

3. Mechanisms of GNAL linked dystonia;Dystonia;2024-05-09

4. A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism;Journal of Movement Disorders;2024-04-30

5. 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

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