Browsing Artículos (Fisiología Médica y Biofísica) by Funding agency "Gobierno regional de Castilla y León"
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Article
The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused by AGTPBP1 Gene Mutations: The Purkinje Cell Degeneration Mouse as an Animal Model for the Study of this Human Disease
(MDPI, 2021-09-04)Recent reports have identified rare, biallelic damaging variants of the AGTPBP1 gene that cause a novel and documented ...