Associated Papers
AAV-based gene therapy ameliorates neurological deficits in a mouse model of childhood-onset neurodegeneration with cerebellar atrophy.
Wada H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Genetic aspects of ataxias in a cohort of Turkish patients.
Gogus B et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
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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