(Q33732462)

29 July 2017

title

MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family (English)

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29 July 2017

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Huang CC

1

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29 July 2017

Chen RS

2

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29 July 2017

Chen CM

3

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29 July 2017

Wang HS

4

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29 July 2017

Lee CC

5

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29 July 2017

Pang CY

6

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29 July 2017

Hsu HS

7

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29 July 2017

Lee HC

8

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29 July 2017

Wei YH

9

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29 July 2017

language of work or name

English

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publication date

1 May 1994

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Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

published in

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29 July 2017

volume

57

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29 July 2017

issue

5

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29 July 2017

page(s)

586-589

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

29 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

MELAS: clinical features, biochemistry, and molecular genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

Ophthalmologic manifestations in MELAS syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

Correlation between clinical and molecular features in two MELAS families

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1072920

30 October 2018

Mitochondrial myopathies

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12 December 2020

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

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12 December 2020

Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

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12 December 2020

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

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12 December 2020

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

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12 December 2020

Identifiers

DOI

10.1136/JNNP.57.5.586

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29 July 2017

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29 July 2017

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