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A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Chacaltana-Vinas, Cesar; Ramirez-Pajares, Patricia; Manrique-Palomino, Alid; Clause, Amanda R; Chawla, Aditi; Thorpe, Erin; Taft, Ryan; Rivera-Valdivia, Andrea; Sarapura-Castro, Elison; Bazalar-Montoya, Jeny; Cornejo-Olivas, Mario.
Affiliation
  • Chacaltana-Vinas C; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • Ramirez-Pajares P; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • Manrique-Palomino A; Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
  • Clause AR; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • Chawla A; Illumina, Inc., San Diego, California, USA.
  • Thorpe E; Illumina, Inc., San Diego, California, USA.
  • Taft R; Illumina, Inc., San Diego, California, USA.
  • Rivera-Valdivia A; Illumina, Inc., San Diego, California, USA.
  • Sarapura-Castro E; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • Bazalar-Montoya J; Neurogenetics Working Group, Universidad Científica del Sur, Lima, Peru.
  • Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Mov Disord Clin Pract ; 11(6): 746-748, 2024 Jun.
Article in En | MEDLINE | ID: mdl-38532471
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonia / Sequestosome-1 Protein Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: America do sul / Peru Language: En Journal: Mov Disord Clin Pract Year: 2024 Document type: Article Affiliation country: Perú Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Dystonia / Sequestosome-1 Protein Limits: Adult / Female / Humans / Male / Middle aged Country/Region as subject: America do sul / Peru Language: En Journal: Mov Disord Clin Pract Year: 2024 Document type: Article Affiliation country: Perú Country of publication: Estados Unidos