Cytochrome b mutations in Leber hereditary optic neuropathy.
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Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathyGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaThe deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriersMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsLeber's hereditary optic neuropathy in Indonesia: Two families with the mtDNA 11778G>A and 14484T>C mutationsA defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderlyHereditary optic neuropathies.Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>CThe deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.Results of Mitochondrial DNA Sequence Analysis in Patients with Clinically Diagnosed Leber's Hereditary Optic Neuropathy.Leber hereditary optic neuropathyEffects of mutations in mitochondrial cytochrome b in yeast and man. Deficiency, compensation and disease.The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.Ocular motility in North Carolina autosomal dominant ataxia.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesMitochondrial complex III deficiency associated with a homozygous mutation in UQCRQMitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and agingMitochondrial DNA sequence variation in human evolution and disease.Molecular genetic basis of primary inherited optic neuropathies.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.Mitochondrial genetics: principles and practice.Leber's Hereditary Optic Neuropathy is it a Disease of Northern Europe and Asia?mtDNA Population Variants and Neurodegenerative Diseases
P2860
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P2860
Cytochrome b mutations in Leber hereditary optic neuropathy.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh-hant
name
Cytochrome b mutations in Leber hereditary optic neuropathy.
@en
Cytochrome b mutations in Leber hereditary optic neuropathy.
@nl
type
label
Cytochrome b mutations in Leber hereditary optic neuropathy.
@en
Cytochrome b mutations in Leber hereditary optic neuropathy.
@nl
prefLabel
Cytochrome b mutations in Leber hereditary optic neuropathy.
@en
Cytochrome b mutations in Leber hereditary optic neuropathy.
@nl
P1476
Cytochrome b mutations in Leber hereditary optic neuropathy.
@en
P2093
P304
P356
10.1016/0006-291X(91)92088-2
P407
P577
1991-12-01T00:00:00Z