Associated Papers
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
33113942 (PubMed )
Supplement: brainsci-10-00768-s001.pdf
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
A novel POLG gene mutation in a patient with SANDO.
Kurt B et al.
Journal of Experimental and Integrative Medicine, 2012
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
Wang W et al.
Nucleic Acids Research, 2011
20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4
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
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 2009
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
Chan SS et al.
Mitochondrion, 2009
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
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