Literature DB >> 35844287

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

Joana Afonso Ribeiro1, Mário Sousa2,3, Isabel Alonso4,5, Fradique Moreira6, Ricardo Pereira7, Filipe Palavra1,8.   

Abstract

Entities:  

Keywords:  PRKRA gene; deep brain stimulation; hereditary dystonia; next‐generation sequencing; pseudogene

Year:  2022        PMID： 35844287      PMCID： PMC9274369          DOI： 10.1002/mdc3.13426

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  [A rare early-onset dystonia (DYT16) in a Portuguese girl].

Authors:  S Almeida; M A Rangel; C Neiva; I Carrilho; M Leao; F Santos; M Vila Real
Journal:  Rev Neurol       Date:  2018-06-16       Impact factor: 0.870

Review 2.  Dystonia.

Authors:  Bettina Balint; Niccolò E Mencacci; Enza Maria Valente; Antonio Pisani; John Rothwell; Joseph Jankovic; Marie Vidailhet; Kailash P Bhatia
Journal:  Nat Rev Dis Primers       Date:  2018-09-20       Impact factor: 52.329

3.  DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.

Authors:  Michael Zech; Florian Castrop; Barbara Schormair; Angela Jochim; Thomas Wieland; Nadine Gross; Peter Lichtner; Annette Peters; Christian Gieger; Thomas Meitinger; Tim M Strom; Konrad Oexle; Bernhard Haslinger; Juliane Winkelmann
Journal:  Mov Disord       Date:  2014-08-20       Impact factor: 10.338

4.  The prevalence of PRKRA mutations in idiopathic dystonia.

Authors:  Camila Oliveira Dos Santos; Francisco Pereira da Silva-Júnior; Renato David Puga; Egberto Reis Barbosa; Sonia Maria Cesar Azevedo Silva; Vanderci Borges; João Carlos Papaterra Limongi; Maria Sheila Guimarães Rocha; Henrique Ballalai Ferraz; Patricia de Carvalho Aguiar
Journal:  Parkinsonism Relat Disord       Date:  2017-12-13       Impact factor: 4.891

5.  GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible Solutions.

Authors:  Stefania Zampieri; Silvia Cattarossi; Bruno Bembi; Andrea Dardis
Journal:  J Mol Diagn       Date:  2017-07-18       Impact factor: 5.568

6.  Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused by PRKRA Mutation.

Authors:  Sara Carvalho Barbosa Casagrande; Clarice Listik; Daniel Boari Coelho; Joao Carlos Papaterra Limongi; Luis Augusto Teixeira; Manoel Jacobsen Teixeira; Egberto Reis Barbosa; Rubens Gisbert Cury
Journal:  Mov Disord Clin Pract       Date:  2019-07-17

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

Authors:  S Chida; H Hohjoh; M Hirai; K Tokunaga
Journal:  Immunogenetics       Date:  2001       Impact factor: 2.846

8.  DYT16: the original cases.

Authors:  Sarah Camargos; Andrew J Lees; Andrew Singleton; Francisco Cardoso
Journal:  J Neurol Neurosurg Psychiatry       Date:  2012-07-28       Impact factor: 10.154

9.  PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Authors:  Marialuisa Quadri; Simone Olgiati; Mariachiara Sensi; Francesca Gualandi; Elisabetta Groppo; Vittorio Rispoli; Josja Graafland; Guido J Breedveld; Giovanni Fabbrini; Alfredo Berardelli; Vincenzo Bonifati
Journal:  Mov Disord       Date:  2016-03-17       Impact factor: 10.338

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

Authors:  Sarah Camargos; Sonja Scholz; Javier Simón-Sánchez; Coro Paisán-Ruiz; Patrick Lewis; Dena Hernandez; Jinhui Ding; J Raphael Gibbs; Mark R Cookson; Jose Bras; Rita Guerreiro; Catarina Resende Oliveira; Andrew Lees; John Hardy; Francisco Cardoso; Andrew B Singleton
Journal:  Lancet Neurol       Date:  2008-02-01       Impact factor: 44.182
  10 in total

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