Associated Papers
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.
Baltanás FC et al.
Biomedicines, 2021
A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype?
Türay S et al.
Neurogenetics, 2021
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
Karakaya M et al.
American Journal of Medical Genetics. Part A, 2019
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V et al.
The Embo Journal, 2018
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