Leber's hereditary optic neuropathy. New genetic considerations.
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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 dystoniaLeber hereditary optic neuropathy: current perspectivesA microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuriaMitochondrial dysfunction in cybrid lines expressing mitochondrial genes from patients with progressive supranuclear palsy.Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family.Hereditary optic neuropathies.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.Mitochondrial myopathies and encephalomyopathies.Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?The neurodegenerative mitochondriopathies.Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve.Finding and interpreting genetic variations that are important to ophthalmologists.Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation.Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside.Leber's Hereditary Optic Neuropathy: The Mitochondrial Connection RevisitedPitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).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.Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutationLongitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencingTreatment of Leber's hereditary optic neuropathy: theory to practice.Role and treatment of mitochondrial DNA-related mitochondrial dysfunction in sporadic neurodegenerative diseases.Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathyColour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.Bilateral vision loss associated with radiofrequency exposure.Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population.High-resolution analysis of DNA copy number alterations in patients with primary open-angle glaucoma.Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy.Delivery to mitochondria: a narrower approach for broader therapeutics.Temperature-dependent auditory neuropathy: is it an acoustic Uhthoff-like phenomenon? A case report.Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)Impairment of central and peripheral myelin in mitochondrial diseases.Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.Psychological morbidity in Leber's hereditary optic neuropathy depends on phenotypic, social, economic, and genetic factors.Trauma-Associated Leber Hereditary Optic Neuropathy.Mitochondrial gene mutations and human diseases: a prolegomenon.Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathyLeber's hereditary optic neuropathy: clinical and molecular profile of a Brazilian sample.
P2860
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P2860
Leber's hereditary optic neuropathy. New genetic considerations.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Leber's hereditary optic neuropathy. New genetic considerations.
@en
type
label
Leber's hereditary optic neuropathy. New genetic considerations.
@en
prefLabel
Leber's hereditary optic neuropathy. New genetic considerations.
@en
P1433
P1476
Leber's hereditary optic neuropathy. New genetic considerations.
@en
P2093
P304
P356
10.1001/ARCHNEUR.1993.00540050082021
P577
1993-05-01T00:00:00Z