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Chapter 4 Leber's Hereditary Optic Neuropathy
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scholarly article
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title
Chapter 4 Leber's Hereditary Optic Neuropathy
(English)
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main subject
hereditary optic neuropathy
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based on heuristic
inferred from title
author name string
Valerio Carelli
series ordinal
1
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publication date
2002
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page(s)
115-142
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cites work
LEBER'S DISEASE IN THE NETHERLANDS.
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Maternal inheritance of human mitochondrial DNA
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Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
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An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
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Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy
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Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.
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The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
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Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
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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
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Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
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Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
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Ocular Fundus in Acute Leber Optic Neuropathy
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Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members
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Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies
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Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
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Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber?
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Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.
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Atypical Leber's hereditary optic neuropathy with molecular confirmation.
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On the many faces of Leber hereditary optic neuropathy.
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A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls
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https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
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The heart in Leber's optic atrophy
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Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy
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Cardiac arrhythmia and Leber's hereditary optic neuropathy
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High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy
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Leber's hereditary optic neuropathy and complex I deficiency in muscle.
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Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy
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Leber's hereditary optic neuropathy: Genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family
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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
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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy
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A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.
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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
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Leber's disease and dystonia: a mitochondrial disease
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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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LEBER'S DISEASE WITH SYMPTOMS RESEMBLING DISSEMINATED SCLEROSIS
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Neurological studies in families with Leber's optic atrophy
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Mitochondrial mutations of Leber's hereditary optic neuropathy: a risk factor for multiple sclerosis.
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Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?
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Sequence of mitochondrial DNA in patients with multiple sclerosis.
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Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis
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LHON mutations in Italian patients affected by multiple sclerosis
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Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein
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Antibodies to human optic nerve in Leber's hereditary optic neuropathy
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[Etiology and clinical aspects of palatal myoclonus]
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Central nervous system involvement in Leber's optic neuropathy.
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Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation
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Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.
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A case-control study of Leber's hereditary optic neuropathy.
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Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
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Cerebellar ataxia in patients with Leber's hereditary optic neuropathy
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Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation
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Leber's hereditary optic atrophy: some clinical and aetiological considerations.
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Mitochondrial DNA analysis in Leber's hereditary optic neuropathy
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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
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Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy
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7 January 2021
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Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.
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Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study
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Further clinical and pathological observations on Leber's optic atrophy
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Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations
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Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case
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The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
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Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.
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Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation
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Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.
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Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation
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Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations
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The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
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mtDNA mutations that cause optic neuropathy: how do we know?
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Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy
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Cytochrome c oxidase mutations in Leber hereditary optic neuropathy
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Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON
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Optic neuropathy in Lhon and Leigh syndrome
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Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences
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Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.
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Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings
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The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
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Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
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Cytochrome b mutations in Leber hereditary optic neuropathy
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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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Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy
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Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation
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Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
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Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
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Mitochondrial DNA variation in human evolution and disease
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'Secondary' 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation
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Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans
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Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variable genotype of Leber's hereditary optic neuropathy patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heteroplasmy in Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adenosine triphosphate deficiency: a genre of optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identical twins who are discordant for Leber's hereditary optic neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Studies on Leber's optic neuropathy III.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Platelet mitochondrial function in Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Titrating the effects of mitochondrial complex I impairment in the cell physiology
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of constriction of optic nerve axons at the lamina cribrosa in the normotensive eye in humans and other mammals
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial disease in mouse results in increased oxidative stress
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Oligodendroglial precursor cell susceptibility to hypoxia is related to poor ability to cope with reactive oxygen species
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The epidemiology of pathogenic mitochondrial DNA mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Remission of Leber's hereditary optic neuropathy with idebenone
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1877-3419%2809%2970063-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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10.1016/S1877-3419(09)70063-7
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