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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis.
Guzmán-Vega FJ et al.
Current Protocols, 2023
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 variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.
Sheffer R et al.
European Journal of Human Genetics : Ejhg, 2019
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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