Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
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
Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.
Rothwell S et al.
Frontiers in Physiology, 2024
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R et al.
Journal of Inherited Metabolic Disease, 2023
Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.
Franklin AD et al.
Frontiers in Genetics, 2021
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D et al.
Mitochondrion, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Hikmat O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017
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
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
Gui YX et al.
Parkinsonism & Related Disorders, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
A novel POLG gene mutation in a patient with SANDO.
Kurt B et al.
Journal of Experimental and Integrative Medicine, 2012
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
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
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Taanman JW et al.
Human Mutation, 2009