(Q34128925)

31 July 2017

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

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31 July 2017

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Robert William Taylor

7

object named as

Robert William Taylor

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31 July 2017

Nichola Zoe Lax

1

1 reference

31 July 2017

Philippa Denis Hepplewhite

2

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31 July 2017

Amy Katherine Reeve

3

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31 July 2017

Victoria Nesbitt

4

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31 July 2017

Robert McFarland

5

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31 July 2017

Evelyn Jaros

6

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31 July 2017

Douglass Matthew Turnbull

8

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31 July 2017

1 February 2012

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Journal of Neuropathology & Experimental Neurology

31 July 2017

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31 July 2017

71

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31 July 2017

2

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31 July 2017

148-161

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describes a project that uses

31 July 2017

1 reference

Loss of myelin-associated glycoprotein in kearns-sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

A neurological perspective on mitochondrial disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Structural study of Purkinje cell axonal torpedoes in essential tremor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Neuropathological changes in essential tremor: 33 cases compared with 21 controls

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Energy metabolism in astrocytes: high rate of oxidative metabolism and spatiotemporal dependence on glycolysis/glycogenolysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

The axonal transport of mitochondria.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Mitochondrial DNA mutations in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Mitochondrial DNA mutations in human colonic crypt stem cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Aging of the human cerebellum: a stereological study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Two-dimensional versus three-dimensional cell counting: a practical perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Oxidative phosphorylation diseases and cerebellar ataxia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Atrophy of the cerebellar vermis in ageing. A morphometric and histologic study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Neuropathology in Kearns-Sayre syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

MERRF: a clinicopathological study. Relationships between myoclonus epilepsies and mitochondrial myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Ions and energy in mammalian brain.

5 July 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E318244477D

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E318244477D

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/10.1097%2FNEN.0B013E318244477D

A cross-study meta-analysis and three-dimensional comparison of cell counting in the anterior cingulate cortex of schizophrenic and bipolar brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E318244477D

Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FNEN.0B013E318244477D

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

MELAS associated with mutations in the POLG1 gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

The distribution of mitochondrial activity in relation to optic nerve structure.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

A case of MERRF associated with chronic pancreatitis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

MR of the brain in mitochondrial myopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3272439

Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells

28 October 2018

1 reference

12 December 2020

Patterns of age-related shrinkage in cerebellum and brainstem observed in vivo using three-dimensional MRI volumetry

1 reference

12 December 2020

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

1 reference

12 December 2020

Degeneration of the cerebellar dentate nucleus in corticobasal degeneration: neuropathological and morphometric investigations

1 reference

12 December 2020

Cerebellar ataxia in patients with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family

1 reference

12 December 2020

Mitochondrial disease in adults: a scale to monitor progression and treatment

1 reference

12 December 2020

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

1 reference

12 December 2020

10.1097/NEN.0B013E318244477D

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference