Varaico: Literature-Extracted Genetic Variants

Gene:POLG
Variant:p.S511N
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POLG

NM_002693.3:p.S511N

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

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

POLG-related disorders and their neurological manifestations.

Rahman S et al.

Nature Reviews. Neurology, 2019

Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.

Chen B et al.

Climacteric : the Journal of the International Menopause Society, 2018

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

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

Dolhun R et al.

Bmc Neurology, 2013

POLG mutations and age at menopause.

Duncan AJ et al.

Human Reproduction (oxford, England), 2012

Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.

Zhang L et al.

Archives of Pathology & Laboratory Medicine, 2011

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Orsucci D et al.

Journal of Molecular Neuroscience : Mn, 2011

Parkinson's syndrome and Parkinson's disease in mitochondrial disorders.

Finsterer J

Movement Disorders : Official Journal of the Movement Disorder Society, 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

The mitochondrial DNA polymerase in health and disease.

Copeland WC

Sub-cellular Biochemistry, 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

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.

Invernizzi F et al.

Neuromuscular Disorders : Nmd, 2008

Inherited mitochondrial diseases of DNA replication.

Copeland WC

Annual Review of Medicine, 2008

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Hudson G et al.

Archives of Neurology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."