PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants ( <scp>DYT‐</scp> PRKRA )-Reference-Cited by-同舟云学术

PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants ( DYT‐ PRKRA )

Published:2022-03-04 Issue:5 Volume:9 Page:703-706
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Movement Disord Clin Pract

Author:

Afonso Ribeiro Joana¹^ORCID,Sousa Mário²³^ORCID,Alonso Isabel⁴⁵^ORCID,Moreira Fradique⁶^ORCID,Pereira Ricardo⁷,Palavra Filipe¹⁸^ORCID

Affiliation:

1. Neuropediatrics Department, Centre of Child Development, Hospital Pediátrico de Coimbra Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

2. Edmond J. Safra Program in Parkinson Disease, Movement Disorder Clinic Toronto Western Hospital and the University of Toronto Department of Medicine Toronto Ontario Canada

3. Department of Neurology, Center for Parkinson's Disease and Movement Disorders Inselspital, Bern University Hospital, University of Bern Bern Switzerland

4. Genetyca‐ICM, Instituto de Estudos Celulares e Moleculares Porto Portugal

5. IBMC—Institute for Molecular and Cell Biology, i3S—Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal

6. Neurology Department, Hospitais da Universidade de Coimbra Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

7. Neurosurgery Department, Hospitais Universidade de Coimbra Centro Hospitalar e Universitário de Coimbra Coimbra Portugal

8. Faculdade de Medicina da Universidade de Coimbra Coimbra Portugal

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13426

Reference10 articles.

1. Dystonia

2. Haplotype-specific sequence encoding the protein kinase, interferon-inducible double-stranded RNA-dependent activator in the human leukocyte antigen class�II region

3. GBA Analysis in Next-Generation Era

4. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

5. The prevalence of PRKRA mutations in idiopathic dystonia

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