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

scientific article published on 01 April 1995

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/BRAIN/118.2.319
P698PubMed publication ID7735876

P50authorMary G. SweeneyQ64857049
P2093author name stringP Riordan-Eva
M D Sanders
A E Harding
J Da Costa
G G Govan
P921main subjecthereditary optic neuropathyQ55789244
P304page(s)319-337
P577publication date1995-04-01
P1433published inBrainQ897386
P1476titleThe clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation
P478volume118 ( Pt 2)

Reverse relations

cites work (P2860)
Q41543647A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis
Q57784916A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy
Q36373032A hypothesis to suggest that light is a risk factor in glaucoma and the mitochondrial optic neuropathies
Q28082057A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation
Q34203428A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy
Q35188343A review of primary hereditary optic neuropathies
Q79719090Acute leber hereditary optic neuropathy in a 73-year-old man
Q55092284Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy.
Q48325105Atypical Leber's hereditary optic neuropathy in a 10-year-old male: a case report.
Q38817091Autoimmunity in visual loss.
Q42118874Bilateral progressive visual loss in an epileptic, mentally retarded boy.
Q49670740Bilateral vision loss due to Leber's hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse
Q46515103Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Q33735635Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation
Q52553824Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON).
Q57721287Chapter 4 Leber's Hereditary Optic Neuropathy
Q41851186Characterization of retinal nerve fiber layer thickness changes associated with Leber's hereditary optic neuropathy by optical coherence tomography
Q52566876Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.
Q48107633Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy
Q38953697Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study
Q37239284Clinical approach to optic neuropathies.
Q35944053Clinical assessment of optic nerve disorders
Q33540913Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy
Q42037714Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.
Q35535213Comparison of Risk Factor Profiles for Primary Open-Angle Glaucoma Subtypes Defined by Pattern of Visual Field Loss: A Prospective Study
Q49900516Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
Q36891963Debrisoquine hydroxylase polymorphism in Leber's hereditary optic neuropathy
Q34540082Differential occurrence of mutations causative of eye diseases in the Chinese population
Q48165447Early visual cortical structural changes in diabetic patients without diabetic retinopathy.
Q34319290Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.
Q35944042Electrophysiological assessment of optic nerve disease
Q34615471Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
Q35832776Epigenetics, epidemiology and mitochondrial DNA diseases.
Q37328975Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial
Q35882889Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.
Q57911781Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy
Q44006913Familial left ventricular hypertrabeculation in two blind brothers
Q47136745Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population
Q37319548Gene-environment interactions in Leber hereditary optic neuropathy
Q43925044Genetic counseling in Leber hereditary optic neuropathy (LHON).
Q34111207Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand
Q43276146Hereditary optic atrophies
Q80981275Hereditary optic neuropathies
Q35308734Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina
Q92543300Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo
Q34747340Human complex I defects in neurodegenerative diseases
Q77403432Human mitochondrial diseases: answering questions and questioning answers
Q38753423Identification of small molecules that improve ATP synthesis defects conferred by Leber's hereditary optic neuropathy mutations
Q36202218Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus.
Q77892102Inheritance of susceptibility to multiple sclerosis
Q37098009Inherited mitochondrial optic neuropathies
Q45169731Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON.
Q40975660Investigation of visual loss: neuro-ophthalmology from a neurologist's perspective
Q80586649Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients
Q60044386Juvenile open-angle Glaucoma associated with Leber's hereditary optic neuropathy: a case report and literature review
Q34600009LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile.
Q79826197Late onset of Leber's hereditary optic neuropathy precipitated by anaemia
Q42737481Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes
Q42363529Leber Hereditary Optic Neuropathy with Interval of Visual Loss Greater Than 12 Months
Q34118893Leber hereditary optic neuropathy
Q35561447Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.
Q33932634Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
Q37319559Leber hereditary optic neuropathy: bad habits, bad vision?
Q26863599Leber hereditary optic neuropathy: current perspectives
Q36348609Leber hereditary optic neuropathy: do folate pathway gene alterations influence the expression of mitochondrial DNA mutation?
Q41547379Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?
Q41678616Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve
Q74783603Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve
Q38932064Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient.
Q34495453Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside
Q44657372Leber's Hereditary Optic Neuropathy: A Case Report
Q28260679Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations
Q36089268Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families
Q45723779Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus
Q30953162Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia.
Q34416699Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients
Q35881405Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing
Q57252161Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background
Q38681881MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis
Q30838092MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis
Q35461606Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy.
Q57911968Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy
Q97093163Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications
Q35944071Mechanisms of axon-glial injury of the optic nerve
Q36481832Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy.
Q24671804Mitochondria
Q37060104Mitochondrial DNA abnormalities in ophthalmological disease
Q33698535Mitochondrial DNA analysis: polymorphisms and pathogenicity
Q28138400Mitochondrial DNA variation in human evolution and disease
Q36762842Mitochondrial disease in childhood: mtDNA encoded
Q33955784Mitochondrial diseases in pediatric ophthalmology
Q34570365Mitochondrial disorders with significant ophthalmic manifestations
Q82029875Mitochondrial encephalomyopathies
Q33540911Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype
Q42930492Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation
Q53072695Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
Q44761373Mitochondrial mutation in Iranian patients with multiple sclerosis, correlation between haplogroups H, A and clinical manifestations
Q38766331Mitochondrial optic neuropathy: In vivo model of neurodegeneration and neuroprotective strategies
Q33838022Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
Q51577298Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy.
Q35944038Molecular genetic basis of primary inherited optic neuropathies.
Q28299151Multiple sclerosis
Q41180852Neurological presentations of mitochondrial diseases
Q36901269Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy
Q30813024Non-compressive disorders of the chiasm
Q24290356OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Q70998621Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations
Q37325438Optic neuritis following measles/rubella vaccination in two 13-year-old children
Q41106441Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)
Q37656235Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy
Q48952461Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report
Q34272310Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis
Q35643475Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
Q37021025Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON)
Q42590475Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
Q42319659Profound vision loss impairs psychological well-being in young and middle-aged individuals
Q92992360Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy
Q30495451Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy
Q46655784Rapid onset of visual recovery following acute visual loss due to leber's hereditary optic neuropathy
Q31081831Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy
Q46532969Recurrent visual loss in Leber hereditary optic neuropathy: a case report
Q49162141Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion
Q37577287Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy
Q35196314Searching for needles in haystacks-the genetics of multiple sclerosis and other common neurological diseases
Q64048994Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations
Q34159148Survival and axonal regeneration of retinal ganglion cells in adult cats
Q90136351The Utility of Fundus Fluorescein Angiography in Neuro-Ophthalmology
Q37090601The complex genetics of multiple sclerosis: pitfalls and prospects
Q78059462The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
Q24611047The epidemiology of Leber hereditary optic neuropathy in the North East of England
Q41509957The genetic analysis of multiple sclerosis
Q33798232The genetic epidemiology of multiple sclerosis
Q33770454The genetics of multiple sclerosis. A review
Q89064224The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis
Q34338783The neuro-ophthalmology of mitochondrial disease
Q44086295The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees
Q79314462Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy
Q42363470Trauma-Associated Leber Hereditary Optic Neuropathy
Q35452117Treatment of Leber hereditary optic neuropathy
Q38040328Treatment of hereditary optic neuropathies
Q34404123Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial
Q34005399Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
Q33729752Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation
Q79790598Visible light affects mitochondrial function and induces neuronal death in retinal cell cultures
Q59238997Visual Recovery Patterns in Children with Leber's Hereditary Optic Neuropathy
Q45084230Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy
Q42672269Visual prognosis better in eyes with less severe reduction of visual acuity one year after onset of Leber hereditary optic neuropathy caused by the 11,778 mutation
Q44133263Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy
Q40456598mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers.