POLG1-related and other "mitochondrial Parkinsonisms": an overview. (Q37827400)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

review article

1 reference

title

POLG1-related and other "mitochondrial Parkinsonisms": an overview (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

1 reference

Elena Caldarazzo Ienco

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

Gabriele Siciliano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Daniele Orsucci

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

Michelangelo Mancuso

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

publication date

8 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

Journal of Molecular Neuroscience

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

17-24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

Variations of the CAG trinucleotide repeat in DNA polymerase γ (POLG1) is associated with Parkinson's disease in Sweden

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Role of Histidine 932 of the Human Mitochondrial DNA Polymerase in Nucleotide Discrimination and Inherited Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

The unfolding clinical spectrum of POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

The mitochondrial DNA polymerase in health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Parkinson's disease: mechanisms and models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Early-onset familial parkinsonism due to POLG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

POLG1 Variations Presenting as Multiple Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

POLG1 polyglutamine tract variants associated with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Is it ADEM, POLG, or both?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA sequence variation and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA single deletion in a patient with postural tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Diagnostic approach to mitochondrial disorders: the need for a reliable biomarker.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Polymerase gamma 1 mutations: clinical correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Prevalence of mitochondrial DNA disease in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Premature ageing in mice expressing defective mitochondrial DNA polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S12031-010-9488-9

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

21 January 2018

1 reference

12 December 2020

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

1 reference

12 December 2020

Mitochondrial DNA polymerase-gamma and human disease

1 reference

12 December 2020

Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation

1 reference

12 December 2020

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

1 reference

12 December 2020

The mtDNA A8344G “MERRF” mutation is not a common cause of sporadic Parkinson disease in Italian population

1 reference

12 December 2020

Mitochondrial dysfunction in Parkinson's disease

1 reference

12 December 2020

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial DNA polymorphisms and haplogroups in Parkinson's disease and control individuals with a similar genetic background

1 reference

12 December 2020

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

1 reference

12 December 2020

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease

1 reference

12 December 2020

POLG, but notPEO1, is a frequent cause of cerebellar ataxia in Central Europe

1 reference

12 December 2020

Abnormalities of the electron transport chain in idiopathic Parkinson's disease

1 reference

12 December 2020

The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe

1 reference

12 December 2020

10.1007/S12031-010-9488-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21221844 AND SRC:MED&resulttype=core&format=json

19 January 2020

1 reference