PRKRAMutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family-Reference-Cited by-同舟云学术

PRKRAMutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family

Published:2016-03-17 Issue:5 Volume:31 Page:765-767
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Quadri Marialuisa¹,Olgiati Simone¹,Sensi Mariachiara²,Gualandi Francesca³,Groppo Elisabetta⁴,Rispoli Vittorio⁴,Graafland Josja¹,Breedveld Guido J.¹,Fabbrini Giovanni⁵,Berardelli Alfredo⁵,Bonifati Vincenzo¹

Affiliation:

1. Department of Clinical Genetics; Erasmus MC; Rotterdam The Netherlands

2. Department of Neurology and Rehabilitation; University Hospital Arcispedale S. Anna; Ferrara Italy

3. Department of Reproduction and Growth; UOL of Medical Genetics, University Hospital S. Anna; Ferrara Italy

4. Department of Biomedical and Specialistic Surgical Sciences; University Hospital Arcispedale S. Anna; Ferrara Italy

5. Department of Neurology and Psychiatry; Sapienza University of Rome and; IRCSS Neuromed Pozzilli Italy

Funder

Stichting ParkinsonFonds (The Netherlands)

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference6 articles.

1. Genetics in dystonia;Klein;Parkinsonism Relat Disord,2014

2. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA;Camargos;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;Aguiar;Mov Disord,2015

Cited by 30 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. Early Onset Parkinsonism: Differential diagnosis and what not to miss;Parkinsonism & Related Disorders;2024-08

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

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

4. Dystonia;Neurobiology of Brain Disorders;2023

5. The Dystonias;CONTINUUM: Lifelong Learning in Neurology;2022-10