Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations (Q42437829)

31 October 2017

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations (English)

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31 October 2017

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parkinsonian syndrome

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based on heuristic

inferred from title

author

Thomas Schwarzlmüller

3

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31 October 2017

Kristoffer Haugarvoll

5

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31 October 2017

10

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31 October 2017

Novin Balafkan

6

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Martin Biermann

Martin Biermann

9

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Charalampos Tzoulis

Charalampos Tzoulis

1

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Karsten Specht

Karsten Specht

4

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Peer Lilleng

7

Peer K Lilleng

1 reference

31 October 2017

Gia Tuong Tran

2

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31 October 2017

Hrvoje Miletic

8

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31 October 2017

language of work or name

English

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publication date

26 April 2013

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31 October 2017

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31 October 2017

136

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31 October 2017

2393-2404

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31 October 2017

Pt 8

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High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

31 October 2017

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Early-onset familial parkinsonism due to POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Parkinson's disease and parkinsonism: neuropathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Proposal for the standardisation of multi-centre trials in nuclear medicine imaging: prerequisites for a European 123I-FP-CIT SPECT database

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

The role of hypoxia inducible factor 1 (HIF-1) in hypoxia induced apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

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/10.1093%2FBRAIN%2FAWT103

Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

The 18F-FDG PET cingulate island sign and comparison to 123I-beta-CIT SPECT for diagnosis of dementia with Lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Deep brain stimulation for Parkinson's disease: surgical technique and perioperative management

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Toxin models of mitochondrial dysfunction in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Differential susceptibility of brain areas to cyanide involves different modes of cell death.

21 January 2018

1 reference

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Nonparametric permutation tests for functional neuroimaging: a primer with examples

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Thalamic noradrenaline in Parkinson's disease: deficits suggest role in motor and non-motor symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Nature of mitochondrial DNA deletions in substantia nigra neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Mechanism of the neurotoxicity of MPTP. An update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

The effect of the removal of the nucleus dentatus on the parkinsonian syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

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/10.1093%2FBRAIN%2FAWT103

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWT103

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWT103

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31 October 2017

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