Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis.
Bostan A et al.
Autonomic Neuroscience : Basic & Clinical, 2012
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