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

11 February 2018

title

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

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11 February 2018

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J Betts

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11 February 2018

E Jaros

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11 February 2018

R H Perry

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11 February 2018

A M Schaefer

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11 February 2018

R W Taylor

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11 February 2018

Z Abdel-All

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11 February 2018

R N Lightowlers

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11 February 2018

D M Turnbull

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publication date

1 August 2006

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11 February 2018

Neuropathology and Applied Neurobiology

published in

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11 February 2018

volume

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11 February 2018

issue

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11 February 2018

page(s)

359-373

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11 February 2018

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

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

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

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

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Mitochondrial respiratory-chain diseases

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

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

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

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

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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

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Cerebral lactic acidosis correlates with neurological impairment in MELAS.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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MELAS: clinical features, biochemistry, and molecular genetics

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

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11 February 2018

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11 February 2018