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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

  • Cesar Chacaltana-Vinas
    ,
  • Patricia Ramirez-Pajares
    ,
  • Alid Manrique-Palomino
    ,
  • Amanda R. Clause
    ,
  • Aditi Chawla
    ,
  • Erin Thorpe
*Corresponding author for this work
  • docencia y atención especializada en epilepsia
    ,
  • Instituto Nacional de Enfermedades Neoplásicas
    ,
  • Illumina, Inc.
    ,
  • Universidad Científica del Sur
    ,
  • Universidad Peruana Cayetano Heredia
    ,
Research Output:
Contribution to journal
Letter
Peer-review

Open access

Publication Information

Output type

Research Output:
Contribution to journal
Letter
Peer-review

Original language

English

Pages from-to (Number of pages)

Pages 746-748 (3 pages)

Journal (Volume, Issue Number)

Movement Disorders Clinical Practice (Volume 11, Issue 6)

Publication milestones

  • Accepted/In press - 2024
  • Published - 06/2024

Publication status

Published - 06/2024

Publication IDs

  • Scopus: 85189556236