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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Asgaonkar ; DS ; 3149 ; A case of Leber's disease. ; J Assoc Physicians India ; 1995 ; 43(8) ; 573-574
Balciuniene ; J ; 3167* ; A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. ; Genomics ; 1995 ; 30(2) ; 281-286
Barboni ; P ; 2132 ; Mitochondrial DNA analysis in Leber's hereditary optic neuropathy. ; Ophthalmic Paediatrics & Genetics ; 1992 ; 13(4) ; 219-26
Bateman ; JB ; 2170 ; Leber optic neuropathy [letter; comment]. ; American Journal of Human Genetics ; 1992 ; 50(2) ; 446-7
Biousse ; V ; 5718 ; De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy. ; Neurology ; 1997 ; 49(4) ; 1136-8
Black ; GC ; 5721 ; Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. ; Br J Ophthalmol ; 1996 ; 80(10) ; 915-7
Borruat ; FX ; 2140 ; Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy. ; British Journal of Ophthalmology ; 1992 ; 76(9) ; 571-3
Bower ; SP ; 2126 ; Cardiac arrhythmia and Leber's hereditary optic neuropathy [letter]. ; Lancet ; 1992 ; 339(8806) ; 1427-8
Brown ; M D ; 2656* ; Pathological Significance of the MtDNA COX III Mutation at Nucleotide Pair 9438 in Leber Hereditary Optic Neuropathy ; Am J Hum Genet ; 1994 ; 55 ; 410-2
Brown ; MD ; 2064* ; Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy [letter]. ; American Journal of Human Genetics ; 1994 ; 55(2) ; 410-2
Brown ; MD ; 2157 ; Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. [Review] ; FASEB Journal ; 1992 ; 6(10) ; 2791-9
Brown ; M.D. ; 2553 ; Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNAs indicates multiple occurrences of the common mutations. ; Human Mutation ; 1995 ; in press ;
Brown ; MD ; 2172 ; Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. ; Genetics ; 1992 ; 130(1) ; 163-73
Brown ; MD ; 2128 ; A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. ; American Journal of Human Genetics ; 1992 ; 51(2) ; 378-85
Brown ; MD ; 3252* ; Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. ; Am J Med Genet ; 1996 ; 61(3) ; 283-289
Bruyn ; GW ; 2133 ; Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings. ; Journal of the Neurological Sciences ; 1992 ; 113(1) ; 55-61
Bu ; X ; 2143 ; Leber hereditary optic neuropathy: estimation of number of embryonic precursor cells and disease threshold in heterozygous affected females at the X-linked locus. ; Clinical Genetics ; 1992 ; 42(3) ; 143-8
Bu ; XD ; 2197 ; X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. ; Proceedings of the National Academy of Sciences of the United States of America ; 1991 ; 88(18) ; 8198-202
Camuzat ; A ; 2007* ; A gene for Leber's congenital amaurosis maps to chromosome 17p. ; Human Molecular Genetics ; 1995 ; 4(8) ; 1447-52
Camuzat ; A ; 3265* ; Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. ; Human Genetics ; 1996 ; 97(6) ; 798-801
Carducci ; C ; 2191 ; Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy. ; Human Genetics ; 1991 ; 87(6) ; 725-7
Carelli ; V ; 5753 ; Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. ; Neurology ; 1997 ; 48(6) ; 1623-32
Carvalho ; MR ; 2121 ; Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7. ; Human Heredity ; 1992 ; 42(5) ; 316-20
Casteels ; I ; 2017* ; Leber congenital amaurosis and Lhermitte-Duclos syndrome: a previously unreported association. ; Journal of Pediatric Ophthalmology & Strabismus ; 1995 ; 32(2) ; 117-9
Cavelier ; L ; 2116 ; Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis. ; Clinical Genetics ; 1993 ; 43(2) ; 69-72
Charlmers ; RM ; 5767 ; A case-control study of Leber's hereditary optic neuropathy. ; Brain ; 1996 ; 119 ( Pt 5) ; 1481-6
Chen ; JD ; 2199 ; X-chromosomal gene in Leber hereditary optic neuroretinopathy [letter; comment]. ; American Journal of Human Genetics ; 1991 ; 49(3) ; 692-3
Cock ; H ; 5784 ; Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy. ; J Neurol Neurosurg Psychiatry ; 1997 ; 62(1) ; 85-7
Cormier ; V ; 2203 ; mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy [letter; comment]. ; American Journal of Human Genetics ; 1991 ; 48(4) ; 813-4
Cornelissen ; JC ; 2078* ; Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(3) ; 531-3
Cortelli ; P ; 2202 ; Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. ; Neurology ; 1991 ; 41(8) ; 1211-5
Cruysberg ; JR ; 3325 ; Leber's optic atrophy; a mitochondrial hereditary disease (letter) ; Ned Tijdschr Geneeskd ; 1995 ; 139(34) ; 1760
Cullom ; ME ; 2094* ; Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. ; Archives of Ophthalmology ; 1993 ; 111(11) ; 1482-5
Curless ; RG ; 2201 ; Leber congenital amaurosis in siblings with diffuse dysmyelination. ; Pediatric Neurology ; 1991 ; 7(3) ; 223-5
de Gottrau ; P ; 2160 ; Distended optic nerve sheaths in Leber's hereditary optic neuropathy. ; Journal of Clinical Neuro-Ophthalmology ; 1992 ; 12(2) ; 89-93
De Vries ; DD ; 3345* ; Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. ; Am J Hum Genet ; 1996 ; 58(4) ; 703-711
Degli Esposti ; M ; 2054* ; Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. ; FEBS Lett ; 1994 ; 352(3) ; 375-9
Dotti ; MT ; 2165 ; Magnetic resonance imaging findings in Leber's hereditary optic neuropathy. ; European Neurology ; 1992 ; 32(1) ; 17-9
DuBois ; LG ; 2149 ; Evidence for a metabolic trigger for Leber's hereditary optic neuropathy. A case report. ; Journal of Clinical Neuro-Ophthalmology ; 1992 ; 12(1) ; 15-6
Dumur ; V ; 2161 ; Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy [letter]. ; Clinical Chemistry ; 1992 ; 38(7) ; 1390
Ehara ; H ; 5837 ; New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. ; Am J Med Genet ; 1997 ; 71(3) ; 258-66
Erickson ; CE ; 759* ; PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy. ; Biochimica et Biophysica Acta ; 1993 ; 1181(1) ; 77-82
Fujiki ; K ; 1445 ; A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy. ; Jinrui Idengaku Zasshi [Japanese Journal of Human Genetics] ; 1991 ; 36(2) ; 143-7
Funakawa ; I ; 2035 ; Cerebellar ataxia in patients with Leber's hereditary optic neuropathy. ; J Neurology ; 1995 ; 242(2) ; 75-7
Gerbitz ; KD ; 2120 ; No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON. ; FEBS Letters ; 1992 ; 314(3) ; 251-5
Govan ; GG ; 2043* ; HLA class II genotypes in Leber's hereditary optic neuropathy. ; Journal of the Neurological Sciences ; 1994 ; 126(2) ; 193-6
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Gu ; SM ; 5894 ; Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. ; Nat Genet ; 1997 ; 17(2) ; 194-7
Hackett ; SE ; 5899 ; Leber's hereditary optic neuropathy: a genetic disorder of the eye. ; Insight ; 1997 ; 22(3) ; 94-6
Hanefeld ; FA ; 2039* ; Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis [letter]. ; Neuropediatrics ; 1994 ; 25(6) ; 331
Harding ; AE ; 2022* ; Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. ; American Journal of Human Genetics ; 1995 ; 57(1) ; 77-86
Harding ; AE ; 2145 ; Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. ; Brain ; 1992 ; 115 ( Pt 4) ; 979-89
Harding ; AE ; 2025* ; Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S82-4
Heher ; KL ; 2166 ; The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients. ; Ophthalmology ; 1992 ; 99(2) ; 241-5
Hiida ; Y ; 2198 ; Mitochondrial DNA analysis of Leber's hereditary optic neuropathy. ; Japanese Journal of Ophthalmology ; 1991 ; 35(1) ; 102-6
Hofhaus ; G ; 3526 ; Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. ; J Biol Chem ; 1996 ; 271(22) ; 13155-13161
Hofmann ; S ; 5922 ; Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. ; Genomics ; 1997 ; 39(1) ; 8-18
Hofmann ; S ; 5925 ; Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 209-13
Hofmann ; S ; 5924 ; Disease relevance of the so-called secondary Leber hereditary optic neuropathy mutations [letter; comment] ; Am J Hum Genet ; 1997 ; 60(6) ; 1539-42
Holt ; I.J. ; 57* ; Genetic hetergeneity and mitochondral DNA heteroplasmy in Leber's hereditary optic neuropathy ; J. Med. Genet. ; 1989 ; 26 ; 739-43
Hotta ; Y ; 2088* ; An atypical Leber's hereditary optic neuropathy with the 11778 mutation. ; British Journal of Ophthalmology ; 1993 ; 77(11) ; 748-50
Hotta ; Y ; 2014 ; Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. ; Japanese Journal of Ophthalmology ; 1995 ; 39(1) ; 96-108
Howell ; N ; 2095* ; When does bilateral optic atrophy become Leber hereditary optic neuropathy? [letter]. ; American Journal of Human Genetics ; 1993 ; 53(4) ; 959-63
Howell ; N ; 2118 ; Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene [letter]. ; Genetics ; 1993 ; 133(1) ; 133-6
Howell ; N ; 2016* ; Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. ; Genetics ; 1995 ; 140(1) ; 285-302
Howell ; N ; 2207 ; Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation [see comments]. ; American Journal of Human Genetics ; 1991 ; 48(5) ; 935-42
Howell ; N ; 2192 ; Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. ; American Journal of Human Genetics ; 1991 ; 49(5) ; 939-50
Howell ; N ; 2171 ; Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy [letter]. ; American Journal of Human Genetics ; 1992 ; 50(2) ; 443-6
Howell ; N ; 2067* ; A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation [letter]. ; American Journal of Human Genetics ; 1994 ; 55(1) ; 203-6
Hrynchak ; PK ; 2042* ; Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation. ; Optometry & Vision Science ; 1994 ; 71(10) ; 604-12
Huoponen ; K ; 2080 ; The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy. ; Human Genetics ; 1993 ; 92(4) ; 379-84
Huoponen ; K ; 2175 ; A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. ; American Journal of Human Genetics ; 1991 ; 48(6) ; 1147-53
Huoponen ; K ; 2076 ; Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy. ; Human Mutation ; 1994 ; 3(1) ; 29-36
Hurko ; O ; 2056* ; Mitochondrial DNA mutations in Leber's optic neuropathy [letter; comment]. ; Annals of Neurology ; 1994 ; 35(5) ; 636
Isashiki ; Y ; 2182 ; Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy. ; Japanese Journal of Ophthalmology ; 1991 ; 35(3) ; 259-67
Isashiki ; Y ; 2152 ; Nonfamilial and unusual cases of Leber's hereditary optic neuropathy identified by mitochondrial DNA analysis. ; Japanese Journal of Ophthalmology ; 1992 ; 36(2) ; 197-204
Ishikawa ; S ; 2024* ; Leber's hereditary optic neuropathy among Japanese. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S85-9
Ivarsson ; SA ; 2114* ; Joubert syndrome associated with Leber amaurosis and multicystic kidneys. ; American Journal of Medical Genetics ; 1993 ; 45(5) ; 542-7
Jacobson ; DM ; 2178 ; Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss. ; Journal of Clinical Neuro-Ophthalmology ; 1991 ; 11(3) ; 152-7
Jaksch ; M ; 3582 ; Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. ; Clin Biochem ; 1995 ; 28(5) ; 503-509
Johns ; DR ; 2137 ; Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation. ; Archives of Ophthalmology ; 1992 ; 110(11) ; 1577-81
Johns ; DR ; 2196 ; Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. ; Biochemical & Biophysical Research Communications ; 1991 ; 174(3) ; 1324-30
Johns ; DR ; 2184 ; Cytochrome b mutations in Leber hereditary optic neuropathy. ; Biochemical & Biophysical Research Communications ; 1991 ; 181(3) ; 1358-64
Johns ; DR ; 2091* ; Cytochrome c oxidase mutations in Leber hereditary optic neuropathy. ; Biochemical & Biophysical Research Communications ; 1993 ; 196(2) ; 810-5
Johns ; DR ; 2092* ; Identical twins who are discordant for Leber's hereditary optic neuropathy. ; Archives of Ophthalmology ; 1993 ; 111(11) ; 1491-4
Johns ; DR ; 1426 ; Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. ; Ophthalmology ; 1993 ; 100(7) ; 981-6
Johns ; DR ; 1415* ; Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). ; American Journal of Human Genetics ; 1993 ; 53(4) ; 916-20
Johns ; DR ; 2167 ; Mitochondrial ND-I mutation in Leber hereditary optic neuropathy [letter]. ; American Journal of Human Genetics ; 1992 ; 50(4) ; 872-4
Johns ; DR ; 1458 ; Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy [letter; comment]. ; American Journal of Human Genetics ; 1991 ; 48(6) ; 1209-13
Johns ; DR ; 2111* ; Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. ; Archives of Ophthalmology ; 1993 ; 111(4) ; 495-8
Johns ; DR ; 1440 ; An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. ; Biochemical & Biophysical Research Communications ; 1992 ; 187(3) ; 1551-7
Jun ; AS ; 3601 ; Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. ; Molecular & Cellular Biology ; 1996 ; 16(3) ; 771-777
Jun ; A.S. ; 2581 ; Marked complex I deficiency in patients harboring the np14459 ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy and dystonia. (Abst.1311) ; American Journal of Human Genetics ; 1994 ; 55 (Suppl.) ; A225
Jun ; AS ; 1407* ; A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. ; Proc Natl Acad Sci USA ; 1994 ; 91(13) ; 6206-10
Juvonen ; V ; 5960 ; Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. ; Hum Mutat ; 1997 ; 9(5) ; 412-7
Juvonen ; V ; 2104* ; Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON) [letter]. ; American Journal of Human Genetics ; 1993 ; 53(1) ; 289-92
Juvonen ; V ; 2077* ; Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing. ; Human Genetics ; 1994 ; 93(1) ; 16-20
Kalman ; B ; 5963 ; Mitochondrial DNA mutations in multiple sclerosis. ; Mult Scler ; 1995 ; 1(1) ; 32-6
Kellar-Wood ; H ; 2065* ; Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. ; Annals of Neurology ; 1994 ; 36(1) ; 109-12
Kelsell ; RE ; 5972 ; Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. ; Hum Mol Genet ; 1997 ; 6(4) ; 597-600
Kerrison ; JB ; 5975 ; Clinical spectrum of Leber's hereditary optic neuropathy. ; Clin Neurosci ; 1997 ; 4(5) ; 295-301
Kobayashi ; Y ; 2066* ; Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy [letter]. ; American Journal of Human Genetics ; 1994 ; 55(1) ; 206-9
Kormann ; BA ; 2187 ; Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy. ; Human Genetics ; 1991 ; 88(1) ; 98-100
Korn-Lubetzki ; I ; 6001 ; Progressive dystonia with optic atrophy in a Jewish-Iraqi family. ; J Neurol Sci ; 1997 ; 151(1) ; 57-63
Kosmorsky ; G ; 1374 ; Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy [published erratum appears in Neurol Clin 1991 May;9(2):xii]. [Review] ; Neurologic Clinics ; 1991 ; 9(1) ; 147-61
Koyama ; K ; 6004 ; Abnormal cyanide metabolism in uraemic patients. ; Nephrol Dial Transplant ; 1997 ; 12(8) ; 1622-8
Labalette ; P ; 2124 ; Diagnosis of Leber's hereditary optic neuropathy without neurological abnormalities [letter]. ; Lancet ; 1992 ; 340(8815) ; 368
Lamminen ; T ; 2033* ; A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy [letter]. ; American Journal of Human Genetics ; 1995 ; 56(5) ; 1238-40
Larsson ; NG ; 2185 ; Leber's hereditary optic neuropathy and complex I deficiency in muscle. ; Annals of Neurology ; 1991 ; 30(5) ; 701-8
Leber ; GE ; 6013 ; Long-term complications associated with prosthetic repair of incisional hernias. ; Arch Surg ; 1998 ; 133(4) ; 378-82
Leo-Kottler ; B ; 3691 ; Correlation between clinical and molecular genetic findings in Leber's optic atrophy ; Ophthalmologe ; 1995 ; 92(1) ; 86-92
Lorenz ; B ; 3719 ; Severe hereditary retinal diseases in childhood ; Ther Umsch ; 1996 ; 53(1) ; 7-19
Lott ; M.T. ; 58* ; Variable Genotype of Leber's Hereditary Optic Neuropathy Patients ; Am. J. Ophthalmol. ; 1990 ; 109 ; 625-31
Mackey ; DA ; 2087 ; Leber's hereditary optic neuropathy. Is it a disease of northern Europe and Asia? [editorial; comment]. ; Ophthalmic Paediatrics & Genetics ; 1993 ; 14(3) ; 105-7
Mackey ; D ; 2103* ; Finger prick blood testing in Leber hereditary optic neuropathy. ; British Journal of Ophthalmology ; 1993 ; 77(5) ; 311-2
Mackey ; D ; 2069* ; Misconceptions about Leber hereditary optic neuropathy. ; Medical Journal of Australia ; 1994 ; 160(12) ; 763-6
Mackey ; D ; 2084* ; Blindness in offspring of women blinded by Leber's hereditary optic neuropathy [letter]. ; Lancet ; 1993 ; 341(8851) ; 1020-1
Mackey ; DA ; 2044 ; Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy. ; Eye ; 1994 ; 8 ( Pt 4) ; 431-6
Mackey ; D ; 2135 ; A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. ; American Journal of Human Genetics ; 1992 ; 51(6) ; 1218-28
Mackey ; DA ; 2136 ; Leber hereditary optic neuropathy in Australia. ; Australian & New Zealand Journal of Ophthalmology ; 1992 ; 20(3) ; 177-84
Macmillan ; C ; 6034 ; Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy. ; Neurology ; 1998 ; 50(2) ; 417-22
Majander ; A ; 1457 ; Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). ; FEBS Letters ; 1991 ; 292(1-2) ; 289-92
Majander ; A ; 2838* ; Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy. ; Eur J Biochem ; 1996 ; 239(1) ; 201-7
Majander ; A ; 6038 ; Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases. ; FEBS Lett ; 1997 ; 412(2) ; 351-4
Mashima ; Y ; 2026* ; Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism. ; Investigative Ophthalmology & Visual Science ; 1995 ; 36(8) ; 1714-20
Mashima ; Y ; 2081 ; High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. ; Human Genetics ; 1993 ; 92(1) ; 101-2
Mashima ; Y ; 2123 ; Remission of Leber's hereditary optic neuropathy with idebenone [letter]. ; Lancet ; 1992 ; 340(8815) ; 368-9
Mashima ; Y ; 2036* ; Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy. ; American Journal of Ophthalmology ; 1995 ; 119(2) ; 245-6
Mashima ; Y ; 2090* ; DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens [letter]. ; American Journal of Ophthalmology ; 1993 ; 116(6) ; 773-4
Mashima ; Y ; 2028* ; Lack of differences among mitochondrial DNA in family members with Leber's hereditary optic neuropathy and differing visual outcomes. ; Journal of Neuro-Ophthalmology ; 1995 ; 15(1) ; 15-9
Mashima ; Y ; 6054 ; Orbital high resolution magnetic resonance imaging with fast spin echo in the acute stage of Leber's hereditary optic neuropathy. ; J Neurol Neurosurg Psychiatry ; 1998 ; 64(1) ; 124-7
Mashima ; Y ; 6055 ; Dissociation of damage to spatial and luminance channels in early Leber's hereditary optic neuropathy manifested by the visual evoked potential. ; Eye ; 1997 ; 11 ( Pt 5) ; 707-12
Matthews ; PM ; 1066* ; Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. ; Human Genetics ; 1995 ; 96(3) ; 261-8
Mitani ; I ; 6084 ; Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. ; Acta Ophthalmol Scand ; 1998 ; 76(1) ; 14-9
Mojon ; DS ; 6092 ; Clinical course of a cohort in the Cuban epidemic optic and peripheral neuropathy. ; Neurology ; 1997 ; 48(1) ; 19-22
Mondelli ; M ; 2181 ; Leber's optic atrophy: VEP and BAEP changes in 16 asymptomatic subjects [letter]. ; Acta Neurologica Scandinavica ; 1991 ; 84(4) ; 366
Montagna ; P ; 2031* ; Abnormal lactate after effort in healthy carriers of Leber's hereditary optic neuropathy [letter]. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1995 ; 58(5) ; 640-1
Moorman ; CM ; 2110 ; Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood. ; Pediatrics ; 1993 ; 91(5) ; 988-9
Mrak ; RE ; 2112* ; Broad A bands of striated muscle in Leber's congenital amaurosis: a new congenital myopathy? [see comments]. ; Neurology ; 1993 ; 43(4) ; 838-41
Nakamura ; M ; 2155 ; High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. ; Japanese Journal of Ophthalmology ; 1992 ; 36(1) ; 56-61
Nakamura ; M ; 2085 ; Genetic analysis of Japanese pedigrees with Leber's hereditary optic neuropathy. ; Kobe Journal of Medical Sciences ; 1993 ; 39(5-6) ; 171-82
Nakamura ; M ; 2105 ; The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees. ; Human Genetics ; 1993 ; 91(4) ; 339-41
Nakamura ; M ; 1428 ; Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. ; Investigative Ophthalmology & Visual Science ; 1993 ; 34(3) ; 488-95
Neame ; PB ; 6118 ; Morphology of acute promyelocytic leukemia with cytogenetic or molecular evidence for the diagnosis: characterization of additional microgranular variants. ; Am J Hematol ; 1997 ; 56(3) ; 131-42
Newman ; NJ ; 2204 ; The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. ; American Journal of Ophthalmology ; 1991 ; 111(6) ; 750-62
Newman ; N.J. ; 2601* ; Cuba Neuropathy Field Investigation Team. Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. ; American Journal of Ophthalmology ; 1994 ; 118 ; 158-168
Newman ; NJ ; 2062* ; Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team. ; American Journal of Ophthalmology ; 1994 ; 118(2) ; 158-68
Newman ; NJ ; 2107* ; Leber's hereditary optic neuropathy. New genetic considerations. [Review] ; Archives of Neurology ; 1993 ; 50(5) ; 540-8
Nikoskelainen ; EK ; 3867* ; Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. ; Ophthalmology ; 1996 ; 103(3) ; 504-514
Nikoskelainen ; EK ; 2055* ; Pre-excitation syndrome in Leber's hereditary optic neuropathy. ; Lancet ; 1994 ; 344(8926) ; 857-8
Nikoskelainen ; E ; 2122 ; Benzodiazepine sensitivity in Leber's hereditary optic neuroretinopathy [letter]. ; Lancet ; 1992 ; 340(8829) ; 1223-4
Nikoskelainen ; EK ; 2018* ; Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1995 ; 59(2) ; 160-4
Nikoskelainen ; E ; 2189 ; Recent advances in Leber's hereditary optic neuroretinopathy. [Review] ; Eye ; 1991 ; 5 ( Pt 3) ; 291-3
Nishimura ; M ; 3869* ; No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan. ; Neurology ; 1995 ; 45(7) ; 1333-1334
Norby ; S ; 2082 ; Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy. ; DNA & Cell Biology ; 1993 ; 12(6) ; 549-52
Norby ; S ; 2206 ; Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. ; Biochemical & Biophysical Research Communications ; 1991 ; 175(2) ; 631-6
Norby ; S ; 2098 ; Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification. ; Human Mutation ; 1993 ; 2(4) ; 309-13
Novotny ; E.J. ; 2604 ; Leber's disease and dystonia: a mitochondrial disease ; Neurology. ; 1986 ; 36 ; 1053-1060
Obermaier-Kusser ; B ; 2051* ; Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy [letter]. ; American Journal of Human Genetics ; 1994 ; 55(5) ; 1063-6
Olsen ; NK ; 2015* ; Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. ; Acta Neurologica Scandinavica ; 1995 ; 91(5) ; 326-9
Oostra ; RJ ; 2006* ; The mitochondrial DNA mutation ND6*14,484C associated with leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain. ; Biochemical & Biophysical Research Communications ; 1995 ; 215(3) ; 1001-5
Oostra ; RJ ; 2009* ; Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings [letter]. ; American Journal of Human Genetics ; 1995 ; 57(4) ; 954-7
Oostra ; RJ ; 3900 ; Leber's optic nerve atrophy; a mitochondrial hereditary disease ; Ned Tijdschr Geneeskd ; 1995 ; 139(26) ; 1327-1331
Oostra ; RJ ; 2086 ; Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy [see comments]. ; Ophthalmic Paediatrics & Genetics ; 1993 ; 14(3) ; 109-15
Oostra ; RJ ; 6138 ; On the many faces of Leber hereditary optic neuropathy. ; Clin Genet ; 1997 ; 51(6) ; 388-93
Oostra ; RJ ; 2060* ; Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. ; Journal of Medical Genetics ; 1994 ; 31(4) ; 280-6
Oostra ; RJ ; 2058* ; Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation. ; Human Genetics ; 1994 ; 94(3) ; 265-70
Ortiz ; RG ; 2164 ; Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy. ; American Journal of Ophthalmology ; 1992 ; 113(5) ; 561-6
Parminder ; AH ; 6149 ; Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. ; Invest Ophthalmol Vis Sci ; 1997 ; 38(3) ; 704-9
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Perrault ; I ; 6158 ; Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. ; Nat Genet ; 1996 ; 14(4) ; 461-4
Perrault ; I ; 6159 ; Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis. ; Hum Genet ; 1998 ; 102(3) ; 322-6
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Rabinowitz ; YS ; 6177 ; Keratoconus. ; Surv Ophthalmol ; 1998 ; 42(4) ; 297-319
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Sharma ; K ; 2053 ; Leber's congenital amaurosis with nephropathy. ; Indian Journal of Ophthalmology ; 1994 ; 42(2) ; 83-4
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Steinberg ; A ; 2154 ; Central nervous system involvement in Leber congenital amaurosis. ; Journal of Pediatric Ophthalmology & Strabismus ; 1992 ; 29(4) ; 224-7
Steinlin ; M ; 2138 ; Myelination of the optic radiation in Leber congenital amaurosis. ; Brain & Development ; 1992 ; 14(4) ; 212-5
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Stone ; EM ; 2150 ; Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. ; Journal of Clinical Neuro-Ophthalmology ; 1992 ; 12(1) ; 10-4
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Sullivan ; TJ ; 2063* ; The ocular pathology in Leber's congenital amaurosis. ; Australian & New Zealand Journal of Ophthalmology ; 1994 ; 22(1) ; 25-31
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Sweeney ; MG ; 2142 ; Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy. ; American Journal of Human Genetics ; 1992 ; 51(4) ; 741-8
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Yen ; MY ; 2820 ; Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy. ; Br J Ophthalmol ; 1996 ; 80(1) ; 78-81
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