scholarly article | Q13442814 |
P356 | DOI | 10.1093/BRAIN/118.2.319 |
P698 | PubMed publication ID | 7735876 |
P50 | author | Mary G. Sweeney | Q64857049 |
P2093 | author name string | P Riordan-Eva | |
M D Sanders | |||
A E Harding | |||
J Da Costa | |||
G G Govan | |||
P921 | main subject | hereditary optic neuropathy | Q55789244 |
P304 | page(s) | 319-337 | |
P577 | publication date | 1995-04-01 | |
P1433 | published in | Brain | Q897386 |
P1476 | title | The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation | |
P478 | volume | 118 ( Pt 2) |
Q41543647 | A Meta-analysis of the association between different genotypes (G11778A, T14484C and G3460A) of Leber hereditary optic neuropathy and visual prognosis |
Q57784916 | A case-control study of tobacco and alcohol consumption in leber hereditary optic neuropathy |
Q36373032 | A hypothesis to suggest that light is a risk factor in glaucoma and the mitochondrial optic neuropathies |
Q28082057 | A peep into mitochondrial disorder: multifaceted from mitochondrial DNA mutations to nuclear gene modulation |
Q34203428 | A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy |
Q35188343 | A review of primary hereditary optic neuropathies |
Q79719090 | Acute leber hereditary optic neuropathy in a 73-year-old man |
Q55092284 | Analysis of Visual Field Defects Obtained with Semiautomated Kinetic Perimetry in Patients with Leber Hereditary Optic Neuropathy. |
Q48325105 | Atypical Leber's hereditary optic neuropathy in a 10-year-old male: a case report. |
Q38817091 | Autoimmunity in visual loss. |
Q42118874 | Bilateral progressive visual loss in an epileptic, mentally retarded boy. |
Q49670740 | Bilateral vision loss due to Leber's hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse |
Q46515103 | Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. |
Q33735635 | Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation |
Q52553824 | Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON). |
Q57721287 | Chapter 4 Leber's Hereditary Optic Neuropathy |
Q41851186 | Characterization of retinal nerve fiber layer thickness changes associated with Leber's hereditary optic neuropathy by optical coherence tomography |
Q52566876 | Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery. |
Q48107633 | Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy |
Q38953697 | Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study |
Q37239284 | Clinical approach to optic neuropathies. |
Q35944053 | Clinical assessment of optic nerve disorders |
Q33540913 | Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy |
Q42037714 | Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. |
Q35535213 | Comparison of Risk Factor Profiles for Primary Open-Angle Glaucoma Subtypes Defined by Pattern of Visual Field Loss: A Prospective Study |
Q49900516 | Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy. |
Q36891963 | Debrisoquine hydroxylase polymorphism in Leber's hereditary optic neuropathy |
Q34540082 | Differential occurrence of mutations causative of eye diseases in the Chinese population |
Q48165447 | Early visual cortical structural changes in diabetic patients without diabetic retinopathy. |
Q34319290 | Effects of idebenone on color vision in patients with leber hereditary optic neuropathy. |
Q35944042 | Electrophysiological assessment of optic nerve disease |
Q34615471 | Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland |
Q35832776 | Epigenetics, epidemiology and mitochondrial DNA diseases. |
Q37328975 | Evaluation of Leber's hereditary optic neuropathy patients prior to a gene therapy clinical trial |
Q35882889 | Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy. |
Q57911781 | Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy |
Q44006913 | Familial left ventricular hypertrabeculation in two blind brothers |
Q47136745 | Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population |
Q37319548 | Gene-environment interactions in Leber hereditary optic neuropathy |
Q43925044 | Genetic counseling in Leber hereditary optic neuropathy (LHON). |
Q34111207 | Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand |
Q43276146 | Hereditary optic atrophies |
Q80981275 | Hereditary optic neuropathies |
Q35308734 | Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina |
Q92543300 | Hormone replacement therapy in Leber's hereditary optic neuropathy: Accelerated visual recovery in vivo |
Q34747340 | Human complex I defects in neurodegenerative diseases |
Q77403432 | Human mitochondrial diseases: answering questions and questioning answers |
Q38753423 | Identification of small molecules that improve ATP synthesis defects conferred by Leber's hereditary optic neuropathy mutations |
Q36202218 | Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus. |
Q77892102 | Inheritance of susceptibility to multiple sclerosis |
Q37098009 | Inherited mitochondrial optic neuropathies |
Q45169731 | Inner retinal contributions to the multifocal electroretinogram: patients with Leber's hereditary optic neuropathy (LHON). Multifocal ERG in patients with LHON. |
Q40975660 | Investigation of visual loss: neuro-ophthalmology from a neurologist's perspective |
Q80586649 | Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients |
Q60044386 | Juvenile open-angle Glaucoma associated with Leber's hereditary optic neuropathy: a case report and literature review |
Q34600009 | LHON gene therapy vector prevents visual loss and optic neuropathy induced by G11778A mutant mitochondrial DNA: biodistribution and toxicology profile. |
Q79826197 | Late onset of Leber's hereditary optic neuropathy precipitated by anaemia |
Q42737481 | Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes |
Q42363529 | Leber Hereditary Optic Neuropathy with Interval of Visual Loss Greater Than 12 Months |
Q34118893 | Leber hereditary optic neuropathy |
Q35561447 | Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. |
Q33932634 | Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? |
Q37319559 | Leber hereditary optic neuropathy: bad habits, bad vision? |
Q26863599 | Leber hereditary optic neuropathy: current perspectives |
Q36348609 | Leber hereditary optic neuropathy: do folate pathway gene alterations influence the expression of mitochondrial DNA mutation? |
Q41547379 | Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve? |
Q41678616 | Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve |
Q74783603 | Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve |
Q38932064 | Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient. |
Q34495453 | Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside |
Q44657372 | Leber's Hereditary Optic Neuropathy: A Case Report |
Q28260679 | Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations |
Q36089268 | Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families |
Q45723779 | Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus |
Q30953162 | Leber's hereditary optic neuropathy with 14484 mutation in Central Java, Indonesia. |
Q34416699 | Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients |
Q35881405 | Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing |
Q57252161 | Low penetrance of the 14484 LHON mutation when it arises in a non‐haplogroup J mtDNA background |
Q38681881 | MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis |
Q30838092 | MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis |
Q35461606 | Magnetic resonance imaging, magnetisation transfer imaging, and diffusion weighted imaging correlates of optic nerve, brain, and cervical cord damage in Leber's hereditary optic neuropathy. |
Q57911968 | Magnetization transfer and diffusion tensor MR imaging of the optic radiations and calcarine cortex from patients with Leber's hereditary optic neuropathy |
Q97093163 | Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications |
Q35944071 | Mechanisms of axon-glial injury of the optic nerve |
Q36481832 | Mechanisms of retinal ganglion specific-cell death in Leber hereditary optic neuropathy. |
Q24671804 | Mitochondria |
Q37060104 | Mitochondrial DNA abnormalities in ophthalmological disease |
Q33698535 | Mitochondrial DNA analysis: polymorphisms and pathogenicity |
Q28138400 | Mitochondrial DNA variation in human evolution and disease |
Q36762842 | Mitochondrial disease in childhood: mtDNA encoded |
Q33955784 | Mitochondrial diseases in pediatric ophthalmology |
Q34570365 | Mitochondrial disorders with significant ophthalmic manifestations |
Q82029875 | Mitochondrial encephalomyopathies |
Q33540911 | Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype |
Q42930492 | Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation |
Q53072695 | Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families. |
Q44761373 | Mitochondrial mutation in Iranian patients with multiple sclerosis, correlation between haplogroups H, A and clinical manifestations |
Q38766331 | Mitochondrial optic neuropathy: In vivo model of neurodegeneration and neuroprotective strategies |
Q33838022 | Mitochondrial respiratory chain disorders I: mitochondrial DNA defects |
Q51577298 | Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathy. |
Q35944038 | Molecular genetic basis of primary inherited optic neuropathies. |
Q28299151 | Multiple sclerosis |
Q41180852 | Neurological presentations of mitochondrial diseases |
Q36901269 | Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy |
Q30813024 | Non-compressive disorders of the chiasm |
Q24290356 | OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 |
Q70998621 | Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations |
Q37325438 | Optic neuritis following measles/rubella vaccination in two 13-year-old children |
Q41106441 | Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON) |
Q37656235 | Pan-American mDNA haplogroups in Chilean patients with Leber's hereditary optic neuropathy |
Q48952461 | Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report |
Q34272310 | Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis |
Q35643475 | Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation |
Q37021025 | Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON) |
Q42590475 | Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. |
Q42319659 | Profound vision loss impairs psychological well-being in young and middle-aged individuals |
Q92992360 | Prognostic factors for visual acuity in patients with Leber's hereditary optic neuropathy after rAAV2-ND4 gene therapy |
Q30495451 | Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy |
Q46655784 | Rapid onset of visual recovery following acute visual loss due to leber's hereditary optic neuropathy |
Q31081831 | Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy |
Q46532969 | Recurrent visual loss in Leber hereditary optic neuropathy: a case report |
Q49162141 | Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion |
Q37577287 | Retinal ganglion cell dysfunction in asymptomatic G11778A: Leber hereditary optic neuropathy |
Q35196314 | Searching for needles in haystacks-the genetics of multiple sclerosis and other common neurological diseases |
Q64048994 | Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations |
Q34159148 | Survival and axonal regeneration of retinal ganglion cells in adult cats |
Q90136351 | The Utility of Fundus Fluorescein Angiography in Neuro-Ophthalmology |
Q37090601 | The complex genetics of multiple sclerosis: pitfalls and prospects |
Q78059462 | The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy |
Q24611047 | The epidemiology of Leber hereditary optic neuropathy in the North East of England |
Q41509957 | The genetic analysis of multiple sclerosis |
Q33798232 | The genetic epidemiology of multiple sclerosis |
Q33770454 | The genetics of multiple sclerosis. A review |
Q89064224 | The 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 |
Q34338783 | The neuro-ophthalmology of mitochondrial disease |
Q44086295 | The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees |
Q79314462 | Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy |
Q42363470 | Trauma-Associated Leber Hereditary Optic Neuropathy |
Q35452117 | Treatment of Leber hereditary optic neuropathy |
Q38040328 | Treatment of hereditary optic neuropathies |
Q34404123 | Trial end points and natural history in patients with G11778A Leber hereditary optic neuropathy : preparation for gene therapy clinical trial |
Q34005399 | Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation |
Q33729752 | Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation |
Q79790598 | Visible light affects mitochondrial function and induces neuronal death in retinal cell cultures |
Q59238997 | Visual Recovery Patterns in Children with Leber's Hereditary Optic Neuropathy |
Q45084230 | Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy |
Q42672269 | Visual 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 |
Q44133263 | Visual recovery in a man with the rare combination of mtDNA 11778 LHON mutation and a MS-like disease after mitoxantrone therapy |
Q40456598 | mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers. |