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
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
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C et al.
American Journal of Medical Genetics. Part A, 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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