(Q33540913)

27 July 2017

1 reference

title

Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy (English)

1 reference

hereditary optic neuropathy

27 July 2017

main subject

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2

A H Schapira

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27 July 2017

R M Chalmers

1

1 reference

27 July 2017

language of work or name

English

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publication date

1 February 1999

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Biochimica et Biophysica Acta

27 July 2017

published in

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27 July 2017

volume

1410

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27 July 2017

issue

2

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27 July 2017

page(s)

147-158

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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

27 July 2017

cites work

1 reference

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Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

7 January 2021

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Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

7 January 2021

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mtDNA mutations that cause optic neuropathy: how do we know?

7 January 2021

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Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

7 January 2021

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

7 January 2021

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

7 January 2021

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Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis

7 January 2021

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Expression of genes from the human active and inactive X chromosomes

7 January 2021

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Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

7 January 2021

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LEBER'S DISEASE IN THE NETHERLANDS.

7 January 2021

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New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease

7 January 2021

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Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

7 January 2021

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

7 January 2021

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Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy

7 January 2021

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Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

7 January 2021

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

7 January 2021

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Ocular Fundus in Acute Leber Optic Neuropathy

7 January 2021

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Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family

7 January 2021

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Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family

7 January 2021

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Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members

7 January 2021

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Magnetic resonance imaging findings in Leber's hereditary optic neuropathy

7 January 2021

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Magnetic resonance imaging in Leber's optic neuropathy

7 January 2021

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High resolution magnetic resonance imaging of the anterior visual pathway in patients with optic neuropathies using fast spin echo and phased array local coils

7 January 2021

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Further clinical and pathological observations on Leber's optic atrophy

7 January 2021

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Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case

7 January 2021

1 reference

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

7 January 2021

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Association of the 11778 mitochondrial DNA mutation and demyelinating disease

7 January 2021

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

7 January 2021

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Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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Cerebellar ataxia in patients with Leber's hereditary optic neuropathy

7 January 2021

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Central nervous system involvement in Leber's optic neuropathy.

7 January 2021

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Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation

7 January 2021

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Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy

7 January 2021

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Cardiac arrhythmia and Leber's hereditary optic neuropathy

7 January 2021

1 reference

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Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy

7 January 2021

1 reference

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Leber's disease and dystonia: a mitochondrial disease

7 January 2021

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A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

7 January 2021

1 reference

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

7 January 2021

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X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

7 January 2021

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The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees

7 January 2021

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Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

7 January 2021

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

7 January 2021

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Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

7 January 2021

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A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis

7 January 2021

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A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

7 January 2021

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Platelet mitochondrial function in Leber's hereditary optic neuropathy

7 January 2021

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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)

7 January 2021

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Leber's hereditary optic neuropathy: Genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900163-7

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

7 January 2021

1 reference

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Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation

7 January 2021

1 reference

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In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900163-7

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

7 January 2021

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Heteroplasmy in Leber's hereditary optic neuropathy

7 January 2021

1 reference

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

7 January 2021

1 reference

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Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy

7 January 2021

1 reference

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Identical twins who are discordant for Leber's hereditary optic neuropathy.

7 January 2021

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De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy

7 January 2021

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Fundus changes in acute malnutritional optic neuropathy

7 January 2021

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7 January 2021

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Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia

7 January 2021

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Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrophy

7 January 2021

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Leber's hereditary optic neuroretinopathy, a mitochondrial disease?

7 January 2021

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Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy

7 January 2021

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Debrisoquine hydroxylase polymorphism in Leber's hereditary optic neuropathy

7 January 2021

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Adenosine triphosphate deficiency: a genre of optic neuropathy

7 January 2021

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Carbon monoxide poisoning as an epigenetic factor for Leber's hereditary optic neuropathy

7 January 2021

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Hydroxocobalamin in the treatment of Leber's hereditary optic atrophy.

7 January 2021

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A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein.

7 January 2021

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Primary biliary cirrhosis: identification of two major M2 mitochondrial autoantigens

7 January 2021

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Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein

7 January 2021

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Antibodies to human optic nerve in Leber's hereditary optic neuropathy

7 January 2021

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HLA class II genotypes in Leber's hereditary optic neuropathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900163-7

HLA class I genotypes in Leber's hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900163-7

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0005-2728%2898%2900163-7

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0005-2728(98)00163-7

1 reference

27 July 2017

1 reference