Associated Papers
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Kalampokini S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
41245005 (PubMed )
Supplement: tohm-15-1-1027-s1.pdf
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.
Baruffini E et al.
Biochimica Et Biophysica Acta, 2007
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Filosto M et al.
Archives of Neurology, 2003
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