(Q64979218)

2 July 2019

title

Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. (English)

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2 July 2019

1 reference

Rummelt V

1

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2 July 2019

Folberg R

2

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2 July 2019

Ionasescu V

3

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2 July 2019

Yi H

4

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2 July 2019

Moore KC

5

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2 July 2019

publication date

1 December 1993

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2 July 2019

published in

Ophthalmology

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2 July 2019

volume

100

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2 July 2019

issue

12

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2 July 2019

page(s)

1757-1766

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2 July 2019

describes a project that uses

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Mitochondrial myopathies

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https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Retinitis Pigmentosa, External Ophthalmoplegia, and Complete Heart Block

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

The clinical features of mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Oculocraniosomatic neuromuscular disease with "ragged-red" fibers.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondria and Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

[Ocular changes in MELAS syndrome]

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

[Anesthesia for eye operations in mitochondrial encephalomyelopathy]

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

1 reference

7 January 2021

MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Heterogeneous phenotypes of mitochondrial encephalomyopathy in a single kindred.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Kearns-Sayre syndrome with hypoparathyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Retinal pathology in the Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Kearns syndrome or Kearns disease. Further evidence of a genuine entity in a case with uncommon features

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Chronic progressive external ophthalmoplegia (CPEO): Clinical, morphologic, and biochemical studies

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Vascular involvement in mitochondrial myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

Findings in muscle in complex I (NADH coenzyme Q reductase) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2813%2931404-3

7 January 2021

10.1016/S0161-6420(13)31404-3

Identifiers

DOI

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2 July 2019

1 reference

2 July 2019