Associated Papers
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Lopriore P et al.
Movement Disorders Clinical Practice, 2024
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S et al.
Journal of Molecular Neuroscience : Mn, 2021
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C et al.
Neuromuscular Disorders : Nmd, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
25852747 (PubMed )
Supplement: Table1.DOCX
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.
Stumpf JD et al.
Plos Genetics, 2014
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Palin EJ et al.
Brain : a Journal of Neurology, 2013
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
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
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Luoma P et al.
Lancet (london, England), 0
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