Literature DB >> 32373670

Imaging Evidence of Nigrostriatal Degeneration in DYT-PRKRA.

Maria João Pinto1,2, Ana Oliveira1,2, Maria José Rosas1, João Massano1,2.   

Abstract

https://onlinelibrary.wiley.com/page/journal/23301619/homepage/mdc312941-sup-v001.htm.
© 2020 International Parkinson and Movement Disorder Society.

Entities:  

Keywords:  PRKRA; SPECT; dystonia; neurodegeneration; parkinsonism

Year:  2020        PMID： 32373670      PMCID： PMC7197315          DOI： 10.1002/mdc3.12941

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


  6 in total

Review 1.  Phenomenology and classification of dystonia: a consensus update.

Authors:  Alberto Albanese; Kailash Bhatia; Susan B Bressman; Mahlon R Delong; Stanley Fahn; Victor S C Fung; Mark Hallett; Joseph Jankovic; Hyder A Jinnah; Christine Klein; Anthony E Lang; Jonathan W Mink; Jan K Teller
Journal:  Mov Disord       Date:  2013-05-06       Impact factor: 10.338

2.  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

3.  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

4.  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

5.  Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

Authors:  Lauren S Vaughn; D Cristopher Bragg; Nutan Sharma; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  J Biol Chem       Date:  2015-07-31       Impact factor: 5.157

6.  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
  6 in total

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