Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve (Q74783603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9667014%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

review article

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title

Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9667014%20AND%20SRC:MED&resulttype=core&format=json

Leber hereditary optic neuropathy

13 November 2019

main subject

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N Howell

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9667014%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

publication date

1 May 1998

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13 November 2019

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13 November 2019

volume

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13 November 2019

issue

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13 November 2019

page(s)

1495-1504

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The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

13 November 2019

cites work

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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

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Race-, age-, gender-, and refractive error-related differences in the normal optic disc

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Number of people with glaucoma worldwide

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

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Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

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mtDNA Mutations That Cause Optic Neuropathy: How Do We Know?

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Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

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Mastocytosis-induced nyctalopia

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Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy

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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

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A case-control study of Leber's hereditary optic neuropathy

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Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

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Association of the 11778 mitochondrial DNA mutation and demyelinating disease

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Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

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Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia

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7 January 2021

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

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7 January 2021

Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

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7 January 2021

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

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7 January 2021

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

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Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

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7 January 2021

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Leber's hereditary optic neuropathy and complex I deficiency in muscle

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Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

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7 January 2021

Platelet mitochondrial function in Leber's hereditary optic neuropathy

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7 January 2021

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

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7 January 2021

Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

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7 January 2021

Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

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7 January 2021

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.

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7 January 2021

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

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7 January 2021

The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain

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7 January 2021

Adenosine triphosphate deficiency: a genre of optic neuropathy

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7 January 2021

Energy metabolism of rabbit retina as related to function: high cost of Na+ transport

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7 January 2021

Chloramphenicol for long-term therapy of cystic fibrosis

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7 January 2021

Optic neuritis with prolonged use of chloramphenicol. Case report and relationship to fundus changes in cystic fibrosis

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7 January 2021

Visual disturbances in cystic fibrosis following chloramphenicol administration

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7 January 2021

Optic disk risk factors for nonarteritic anterior ischemic optic neuropathy.

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7 January 2021

Mechanisms of optic nerve damage in primary open angle glaucoma

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

The nerve of glaucoma!

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7 January 2021

Elevated glutamate levels in the vitreous body of humans and monkeys with glaucoma

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7 January 2021

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7 January 2021

The release of cytochrome c from mitochondria: a primary site for Bcl-2 regulation of apoptosis

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7 January 2021

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7 January 2021

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7 January 2021

10.1016/S0042-6989(97)00444-6

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9667014%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9667014%20AND%20SRC:MED&resulttype=core&format=json