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

Autor: Fernando C. Baltanás, María T. Berciano, Eugenio Santos, Miguel Lafarga

Publikováno v: Biomedicines, Vol 9, Iss 9, p 1157 (2021)

Recent reports have identified rare, biallelic damaging variants of the AGTPBP1 gene that cause a novel and documented human disease known as childhood-onset neurodegeneration with cerebellar atrophy (CONDCA), linking loss of function of the AGTPBP1

Externí odkaz: https://doaj.org/article/c38472fb8c8342c0ac398f5c7885c97d

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

Autor: Eugenio Santos, Fernando C. Baltanás, Maria T. Berciano, Miguel Lafarga

Publikováno v: Biomedicines 2021, 9(9), 1157
Biomedicines
Biomedicines, Vol 9, Iss 1157, p 1157 (2021)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)

© 2021 by the authors.
Recent reports have identified rare, biallelic damaging variants of the AGTPBP1 gene that cause a novel and documented human disease known as childhood-onset neurodegeneration with cerebellar atrophy (CONDCA), linking los

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fdb975e5c9ac526824e8efcba621261
http://hdl.handle.net/10902/22379