Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement (Q48462967)

11 February 2018

http://europepmc.org/abstract/MED/16866982

title

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement (English)

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

1 reference

J Betts

1

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

E Jaros

2

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

R H Perry

3

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

A M Schaefer

4

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

R W Taylor

5

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

Z Abdel-All

6

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

R N Lightowlers

7

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

D M Turnbull

8

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

publication date

1 August 2006

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

published in

Neuropathology and Applied Neurobiology

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

volume

32

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

issue

4

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

page(s)

359-373

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

cites work

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

MELAS with prominent white matter gliosis and atrophy of the cerebellar granular layer: a clinical, genetic, and pathological study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Vascular involvement in mitochondrial myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Senile dementia of Lewy body type. A clinically and neuropathologically distinct form of Lewy body dementia in the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

MELAS: clinical phenotype and morphological brain abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Neuropathological features of mitochondrial disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Reversible brain dysfunction in MELAS: MEG, and (1)H MRS analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Mechanisms of migraine aura revealed by functional MRI in human visual cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

Focal hyperemia followed by spreading oligemia and impaired activation of rcbf in classic migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00731.X

10.1111/J.1365-2990.2006.00731.X

21 January 2018

Identifiers

DOI

1 reference

11 February 2018

http://europepmc.org/abstract/MED/16866982

1 reference

11 February 2018