The prevalence of PRKRA mutations in idiopathic dystonia-Reference-Cited by-同舟云学术

The prevalence of PRKRA mutations in idiopathic dystonia

Published:2018-03 Issue: Volume:48 Page:93-96
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

dos Santos Camila Oliveira,da Silva-Júnior Francisco Pereira,Puga Renato David,Barbosa Egberto Reis,Azevedo Silva Sonia Maria Cesar,Borges Vanderci^ORCID,Limongi João Carlos Papaterra,Rocha Maria Sheila Guimarães,Ferraz Henrique Ballalai,de Carvalho Aguiar Patricia

Funder

Sao Paulo Research Foundation (FAPESP), Sao Paulo, Brazil

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference12 articles.

1. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA;Camargos;Lancet Neurol.,2008

2. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient;Seibler;Lancet Neurol.,2008

3. A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities;Lemmon;Mov. Disord,2013

4. DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family;Zech;Mov. Disord.,2014

5. Novel compound heterozygous mutations in PRKRA cause pure dystonia;de Carvalho Aguiar;Mov. Disord.,2015

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1. A frameshift mutation in the murinePrkragene causes dystonia and exhibits abnormal cerebellar development and reduced eIF2α phosphorylation;2024-06-04

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3. PRKRA promotes pancreatic cancer progression by upregulating MMP1 transcription via the NF-κB pathway;Heliyon;2023-06

4. Luteolin protects DYT-PRKRA cells from apoptosis by suppressing PKR activation;Frontiers in Pharmacology;2023-02-15

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