Literature DB >> 33866603

A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.

Thomas Musacchio1, Michael Zech2,3, Juliane Winkelmann2,3,4,5, Jens Volkmann1, Martin M Reich1.   

Abstract

Entities:  

Year:  2021        PMID： 33866603     DOI： 10.1002/ana.26081

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


× No keyword cloud information.
  2 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.  Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.

Authors:  Francesca Magrinelli; Dalila Moualek; Meriem Tazir; Lamia Ali Pacha; Alice Verghese; Kailash P Bhatia; Reza Maroofian; Henry Houlden
Journal:  Mov Disord Clin Pract       Date:  2021-11-21
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.