Mitochondrial encephalomyopathy: variable clinical expression within a single kindred (Q24514945)

1 July 2017

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred (English)

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mitochondrial encephalomyopathy

1 July 2017

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Crimmins D

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1 July 2017

Morris JG

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1 July 2017

Walker GL

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1 July 2017

Sue CM

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1 July 2017

Byrne E

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1 July 2017

Stevens S

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1 July 2017

Jean-Francis B

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1 July 2017

Yiannikas C

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1 July 2017

Pamphlett R

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1 July 2017

language of work or name

English

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publication date

1 August 1993

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Journal of Neurology, Neurosurgery and Psychiatry

1 July 2017

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1 July 2017

56

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1 July 2017

8

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1 July 2017

900-905

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Subacute necrotizing encephalomyelopathy in an infant

1 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

The significance of the incidental finding of basal ganglia calcification on computed tomography

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Needle biopsy of skeletal muscle: a review of 10 years experience

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Cytochrome oxidase deficiency: clinical and biochemical heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Clinical correlations of CT scan-detected calcifications of the basal ganglia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease). An ultrastructural study.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Strokelike episodes in MERRF.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

The clinical features of mitochondrial myopathy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

MELAS syndrome involving a mother and two children.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Significance of basal ganglia calcification on computed tomography in children

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015147

The molecular aetiology of human mitochondrial myopathies

29 November 2018

1 reference

12 December 2020

Small, beautiful and essential

1 reference

12 December 2020

Mitochondrial encephalomyopathies

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJNNP.56.8.900

7 January 2021

inferred from DOI database lookup

Biogenesis of mitochondria and genetics of mitochondrial defects

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJNNP.56.8.900

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JNNP.56.8.900

1 reference

1 July 2017

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1 reference