Associated Papers
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
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.
Castiglioni C et al.
European Journal of Human Genetics : Ejhg, 2018
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
Da Pozzo P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.
Delgado-Alvarado M et al.
Journal of the Neurological Sciences, 2015
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
Sato K et al.
Journal of Neurology, 2011
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
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
Stumpf JD et al.
Human Molecular Genetics, 2010
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
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ et al.
Human Mutation, 2008