Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
about
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IGenetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystoniaLeber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigreesA new mtDNA mutation associated with Leber hereditary optic neuroretinopathyLeber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutationMitochondrial disorders: challenges in diagnosis & treatmentThe ocular manifestations of multiple sclerosis. 1. Abnormalities of the afferent visual system.Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.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.Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in ChineseHigh resolution magnetic resonance imaging of the anterior visual pathway in patients with optic neuropathies using fast spin echo and phased array local coils.The identification of the Romanovs: Can we (finally) put the controversies to rest?A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.Pedigree models for complex human traits involving the mitochondrial genome.Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.Germ-line deletions of mtDNA in mitochondrial myopathyOptic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.Prenatal diagnosis of mitochondrial DNA8993 T----G disease.Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIn vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy.Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutationX chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results.Mitochondrial DNA in sickness and in health.Mitochondrial genome: defects, disease, and evolution.Theoretical studies on the control of oxidative phosphorylation in muscle mitochondria: application to mitochondrial deficiencies.Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy.
P2860
Q24532788-A1D79073-6B06-470F-916F-70037F605207Q24669970-6BA0CDFC-0170-47F5-B77A-0A94FC56DC50Q24676021-E62200C0-1E2B-4E95-B34D-4B9E4DCB2467Q24678456-4606A03E-5764-4310-9EE4-D12E41315809Q24678885-BD51FD10-E6A0-40E3-900D-EF1EC4D4D3F6Q24679168-569F770D-F9C8-4C84-B2A5-76F0CE73B403Q27000484-E78B2E8D-33AE-4460-B6E1-20A069F08838Q33591406-89DF05EE-B11B-4976-A6EF-7A6861036D7EQ33597770-5BF23ABC-A0C3-4E6A-842E-B15272FE124FQ33673825-4F971540-0B2C-4747-B1C9-BC7EFD940B6CQ33675684-6E9EF39C-53B0-43A0-B51D-193F6F2193E2Q33728452-AE1CFA6F-E498-462A-8F94-15811EB0E19BQ33734093-B6FE37CB-B7F1-4972-A25F-09C57BAE1734Q34219040-8AEB59A4-4BF0-4F42-979B-C1534A29DB1CQ34627393-16137B0D-A6F3-40BD-9DB3-D79F20A26440Q35195183-3E12A258-3D86-41CC-B498-15DBB45FB62FQ35196053-DDE9D8CE-D0B3-4125-91FC-29AAD77B82A8Q35196293-8321394B-19E4-4A27-9662-3ED957EEEBE2Q35196394-54F19EFB-51F4-41DA-843B-1C1FB8B5C9AAQ35196453-EBF02489-836E-47BF-9722-C99B73F22354Q35198232-81611C35-8F82-4C91-9C40-70690EA05A9FQ35198332-9A787F8B-0838-451D-8C3C-109E8373DD4EQ35199431-2C88933F-3E10-4BE5-BBE9-3D4FAC97764AQ35643475-A1352E43-8AFF-42E3-9919-21D2C72C6E23Q35882889-C389858E-3B22-4FE1-BCB3-B1501A52DD2EQ36581411-94F26DF2-CA13-40B9-8ED8-AEE707405F56Q36689236-E8CD044C-6858-451F-8015-D729AFB9090AQ37299135-5C0B256B-E245-4D1A-8AD9-7E4E0A08A072Q37299771-E79740FC-35A6-48F4-A35F-745744E9F9AEQ37324229-37221F45-E829-46C1-AA31-0A52883E800CQ37594930-60F1DE7E-EB49-4DF9-8A54-FA2150B5A305Q37618929-75F6B001-74CA-457C-8E18-B52324CA3197Q37904334-20FC54BD-2C62-4892-81BF-915841E2A066Q41239978-F1D906BC-C27A-450E-A29B-2FE15A848C2DQ41791437-7FFC6002-DB94-4E05-8398-40842C3CF1BBQ42558110-7EB58DB3-7FED-4DFD-B1B0-6490CAF28395Q42558990-6FC1FB5D-342E-483E-8DD2-A2E6C2873F29Q42559012-F84D130C-EC92-4F97-83C1-FA6280BD7E99Q43146077-841971B1-01E7-44A5-B222-9795733727FFQ43146225-FBEC619D-479B-4E7C-9FB7-2B200ADAB3AE
P2860
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
description
1989 nî lūn-bûn
@nan
1989 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@ast
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@en
type
label
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@ast
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@en
prefLabel
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@ast
Genetic heterogeneity and mito ...... s hereditary optic neuropathy.
@en
P2860
P356
P1476
Genetic heterogeneity and mito ...... 's hereditary optic neuropathy
@en
P2093
A E Harding
D H Miller
P2860
P304
P356
10.1136/JMG.26.12.739
P407
P50
P577
1989-12-01T00:00:00Z