A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
作者信息
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
机构信息
Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
Unidad Funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
出版信息
Mov Disord Clin Pract. 2024 Jun;11(6):746-748. doi: 10.1002/mdc3.14025. Epub 2024 Mar 26.
Abstract
摘要
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