Literature DB >> 32576493

ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype.

Anjali Chouksey1, Sanjay Pandey2.   

Abstract

Entities:  

Keywords:  ATP1A3 mutation; CAPOS syndrome; Dystonia deafness syndrome

Year:  2020        PMID： 32576493     DOI： 10.1016/j.parkreldis.2020.05.029

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  2 in total

1.  Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.

Authors:  Anjali Chouksey; Asish Vijayaraghavan; Sony Mohan; Srija Inturi; A T Prabhakar; Vivek Mathew
Journal:  Mov Disord Clin Pract       Date:  2021-09-10

Review 2.  ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Authors:  Philippe A Salles; Ignacio F Mata; Tobias Brünger; Dennis Lal; Hubert H Fernandez
Journal:  Front Neurol       Date:  2021-04-01       Impact factor: 4.003
  2 in total

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