Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Mitochondrial disease and epilepsy in children.
Zhang X et al.
Frontiers in Neurology, 2024
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Molecular pathogenesis of polymerase γ-related neurodegeneration.
Tzoulis C et al.
Annals of Neurology, 2014
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
Milone M et al.
Neuromuscular Disorders : Nmd, 2008
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Van Goethem G et al.
Neurology, 2004
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