Literature DB >> 33606314

PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.

Silvia Masnada1, Diego Martinelli2, Marta Correa-Vela3, Emanuele Agolini4, Heidy Baide-Mairena3, Anna Marcé-Grau3, Cecilia Parazzini5, Pierangelo Veggiotti1,6, Belen Perez-Duenas7,8,9, Davide Tonduti1.   

Abstract

Entities:  

Year:  2021        PMID： 33606314     DOI： 10.1002/mds.28492

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  4 in total

Review 1.  Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Authors:  Sophie E Waller; Hugo Morales-Briceño; Laura Williams; Shekeeb S Mohammad; Avi Fellner; Kishore R Kumar; Michel Tchan; Victor S C Fung
Journal:  Mov Disord Clin Pract       Date:  2021-12-16

2.  DYT-PRKRA Mutation P222L Enhances PACT's Stimulatory Activity on Type I Interferon Induction.

Authors:  Lauren S Vaughn; Kenneth Frederick; Samuel B Burnett; Nutan Sharma; D Cristopher Bragg; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  Biomolecules       Date:  2022-05-17

Review 3.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

4.  Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Authors:  B Molloy; E R Jones; N D Linhares; P G Buckley; T R Leahy; B Lynch; I Knerr; M D King; K M Gorman
Journal:  Front Genet       Date:  2022-09-14       Impact factor: 4.772
  4 in total

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