Literature DB >> 32959737

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.

Steven A Gunzler1, Suzanne D DeBrosse2.   

Abstract

Entities:  

Keywords:  Ataxia; Dystonia; Epilepsy; Genetic; Myoclonus; NUS1

Year:  2020        PMID： 32959737     DOI： 10.1017/cjn.2020.204

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN： 0317-1671            Impact factor:   2.104


× No keyword cloud information.
  2 in total

1.  Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8.

Authors:  Diane Doummar; Marco Treven; Leila Qebibo; David Devos; Jamal Ghoumid; Claudia Ravelli; Gottfried Kranz; Martin Krenn; Diane Demailly; Laura Cif; Jean-Baptiste Davion; Fritz Zimprich; Lydie Burglen; Michael Zech
Journal:  Ann Clin Transl Neurol       Date:  2021-08-20       Impact factor: 4.511

2.  NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

Authors:  Giulietta M Riboldi; Edoardo Monfrini; Christine Stahl; Steven J Frucht
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2022-06-15
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.