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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
Abe ; K ; 1027 ; Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Acta Neurologica Scandinavica ; 1991 ; 83(6) ; 356-9
Attardi ; G ; 1089* ; Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems. [Review] ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 241-8
Ban ; S ; 794 ; An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. ; Acta Pathologica Japonica ; 1992 ; 42(11) ; 818-25
Barak ; Y ; 597* ; MELAS syndrome: peripheral neuropathy Bendahanand cytochrome C-oxidase deficiency: a case report and review of the literature. [Review] ; Israel Journal of Medical Sciences ; 1995 ; 31(4) ; 224-9
Bentlage ; HA ; 3197 ; Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. ; Human Molecular Genetics ; 1996 ; 5(2) ; 197-205
Campos ; Y ; 1049* ; Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome. ; Pediatric Neurology ; 1995 ; 13(1) ; 69-72
Campos ; Y ; 3263* ; Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. ; Muscle & Nerve ; 1996 ; 19(2) ; 187-190
Campos ; Y ; 5750 ; Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. ; Biochem Biophys Res Commun ; 1997 ; 238(2) ; 323-5
Carroll ; JC ; 1039* ; Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. ; Archives of Physical Medicine & Rehabilitation ; 1995 ; 76(11) ; 1014-6
Castillo ; M ; 594* ; MELAS syndrome: imaging and proton MR spectroscopic findings. ; Ajnr: American Journal of Neuroradiology ; 1995 ; 16(2) ; 233-9
Chariot ; P ; 1305* ; Simvastatin-induced rhabdomyolysis followed by a MELAS syndrome. ; American Journal of Medicine ; 1993 ; 94(1) ; 109-10
Chen ; RS ; 734* ; Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies. ; Acta Neurologica Scandinavica ; 1993 ; 87(6) ; 494-8
Chiang ; LM ; 570* ; Heteroplasmic mitochondrial DNA mutation in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. [Review] ; Journal of the Formosan Medical Association ; 1995 ; 94(1-2) ; 42-7
Chinnery ; PF ; 5773 ; Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. ; Brain ; 1997 ; 120 ( Pt 10) ; 1713-21
Chomyn ; A ; 824 ; MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. ; Proceedings of the National Academy of Sciences of the United States of America ; 1992 ; 89(10) ; 4221-5
Ciafaloni ; E ; 1022 ; Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. ; Neurology ; 1991 ; 41(10) ; 1663-4
Ciafaloni ; E ; 992 ; MELAS: clinical features, biochemistry, and molecular genetics. ; Annals of Neurology ; 1992 ; 31(4) ; 391-8
Clark ; JM ; 3303* ; MELAS: Clinical and pathologic correlations with MRI, xenon/CT, and MR spectroscopy. ; Neurology ; 1996 ; 46(1) ; 223-227
Collins ; S ; 565* ; Contrasting histochemical features of various mitochondrial syndromes. ; Acta Neurologica Scandinavica ; 1995 ; 91(4) ; 287-93
Cortopassi ; G ; 1091* ; Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 171-6
Damian ; MS ; 5803 ; Follow-up in carriers of the 'MELAS' mutation without strokes. ; Eur Neurol ; 1998 ; 39(1) ; 9-15
Damian ; MS ; 3330* ; Clinical spectrum of the MELAS mutation in a large pedigree. ; Acta Neurol Scand ; 1995 ; 92(5) ; 409-415
de Coo ; IF ; 5808 ; A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes. ; Neurology ; 1998 ; 50(1) ; 293-5
De Quick ; M ; 1020 ; MELAS: a family with paternal inheritance [letter]. ; Annals of Neurology ; 1991 ; 29(4) ; 456-7
de Vries ; D ; 643* ; Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. ; Journal of the Neurological Sciences ; 1994 ; 124(1) ; 77-82
DeGraba ; TJ ; 1104* ; Genetics of ischemic stroke. [Review] ; Current Opinion in Neurology ; 1995 ; 8(1) ; 24-9
Del Olmo ; A ; 3351 ; MELAS syndrome: clinical, pathological and neuroimaging study ; Rev Neurol ; 1995 ; 23(120) ; 410-413
Di Trapani ; G ; 5819 ; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Clin Neuropathol ; 1997 ; 16(4) ; 195-200
Donovan ; TJ ; 3363* ; Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss. ; Ann Otol Rhinol Laryngol ; 1995 ; 104(10) ; 786-792
Dougherty ; FE ; 1152* ; Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Journal of Pediatrics ; 1994 ; 125(5 Pt 1) ; 758-61
Dunbar ; DR ; 3370 ; Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. ; Human Molecular Genetics ; 1996 ; 5(1) ; 123-129
Enter ; C ; 1002 ; A specific point mutation in the mitochondrial genome of Caucasians with MELAS. ; Human Genetics ; 1991 ; 88(2) ; 233-6
Erro ; E ; 3394 ; MELAS syndrome with peripheral neuropathy ; Neurologia ; 1995 ; 10(2) ; 117
Eymard ; B ; 1334 ; Mitochondrial encephalomyopathies. [Review] ; Current Opinion in Neurology & Neurosurgery ; 1992 ; 5(6) ; 909-16
Fabrizi ; GM ; 3406* ; The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. ; J Neurol Neurosurg Psychiatr ; 1996 ; 61(1) ; 47-51
Fang ; W ; 731* ; Ophthalmologic manifestations in MELAS syndrome. ; Archives of Neurology ; 1993 ; 50(9) ; 977-80
Fang ; W ; 3408* ; Polyneuropathy in the mtDNA base pair 3243 point mutation ; Neurology ; 1996 ; 46(5) ; 1494-1495
Feigenbaum ; A ; 3412* ; The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. ; Am J Med Genet ; 1996 ; 62(4) ; 404-409
Flierl ; A ; 5856 ; Pathophysiology of the MELAS 3243 transition mutation. ; J Biol Chem ; 1997 ; 272(43) ; 27189-96
Folgero ; T ; 563* ; The 3243 MELAS mutation in a pedigree with MERRF. ; Eur Neurol ; 1995 ; 35(3) ; 168-71
Forster ; C ; 783 ; Mitochondrial angiopathy in a family with MELAS. ; Neuropediatrics ; 1992 ; 23(3) ; 165-8
Fujii ; T ; 1073* ; 123I-IMP SPECT findings in mitochondrial encephalomyopathies. ; Brain Dev ; 1995 ; 17(2) ; 89-94
Fujii ; T ; 1031 ; MELAS of infantile onset: mitochondrial angiopathy or cytopathy?. ; Journal of the Neurological Sciences ; 1991 ; 103(1) ; 37-41
Gebhart ; SS ; 3443* ; Insulin resistance associated with maternally inherited diabetes and deafness. ; Metabolism ; 1996 ; 45(4) ; 526-531
Gilchrist ; JM ; 3452* ; Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes. ; Stroke ; 1996 ; 27(8) ; 1420-1423
Goto ; Y ; 113* ; A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies ; Nature ; 1990 ; 348 ; 651-3
Goto ; Y ; 1019 ; A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ; Biochimica et Biophysica Acta ; 1991 ; 1097(3) ; 238-40
Goto ; Y ; 651* ; A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Biochemical & Biophysical Research Communications ; 1994 ; 202(3) ; 1624-30
Goto ; Y. ; 21* ; Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. ; Neurology ; 1992 ; 42(3 Pt 1) ; 545-550
Goto ; Y ; 576* ; Clinical features of MELAS and mitochondrial DNA mutations. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S107-12
Gropen ; TI ; 1170* ; Cerebral hyperemia in MELAS. ; Stroke ; 1994 ; 25(9) ; 1873-6
Hagenfeldt ; L ; 1158* ; Creatine treatment in MELAS [letter]. ; Muscle & Nerve ; 1994 ; 17(10) ; 1236-7
Hamazaki ; S ; 748* ; Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient. ; Acta Pathologica Japonica ; 1993 ; 43(4) ; 187-91
Hasegawa ; H ; 1026 ; Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ; Annals of Neurology ; 1991 ; 29(6) ; 601-5
Hayashi ; J ; 704 ; Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. ; Biochemical & Biophysical Research Communications ; 1993 ; 197(3) ; 1049-55
Hess ; J ; 843* ; Ischaemic colitis due to mitochondrial cytopathy [letter]. ; Lancet ; 1995 ; 346(8968) ; 189-90
Hilton ; G ; 3520* ; MELAS: a mitochondrial encephalomyopathy syndrome. ; J Neurosci Nurs ; 1995 ; 27(5) ; 278-282
Hirano ; M ; 1347 ; Melas: an original case and clinical criteria for diagnosis. [Review] ; Neuromuscular Disorders ; 1992 ; 2(2) ; 125-35
Hirano ; M ; 677 ; Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. [Review] ; J Child Neurol ; 1994 ; 9(1) ; 4-13
Holme ; E ; 1088* ; Inheritance and expression of mitochondrial DNA point mutations. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 249-52
Hsieh ; F ; 3542* ; Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. ; J Am Soc Nephrol ; 1996 ; 7(5) ; 647-652
Hsu ; CC ; 1041* ; CPEO and carnitine deficiency overlapping in MELAS syndrome. ; Acta Neurologica Scandinavica ; 1995 ; 92(3) ; 252-5
Huang ; CC ; 661* ; MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1994 ; 57(5) ; 586-9
Huang ; CC ; 3546* ; Random mitotic segregation of mitochondrial DNA in MELAS syndrome. ; Acta Neurol Scand ; 1996 ; 93(2-3) ; 198-202
Ikejiri ; Y ; 3561* ; Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. ; Neurology ; 1996 ; 47(2) ; 583-585
Ishikawa ; Y ; 1065 ; Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). ; Pathology, Research & Practice ; 1995 ; 191(1) ; 64-75
Isozumi ; K ; 627 ; A MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) mtDNA mutation that induces subacute dementia which mimicks Creutzfeldt-Jakob disease. ; Internal Medicine ; 1994 ; 33(9) ; 543-6
Itaya ; K ; 3569 ; Anesthetic management of two patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) ; Masui ; 1995 ; 44(5) ; 710-712
Ito ; J ; 1047 ; A patient with MELAS and arterial occlusive findings on cerebral angiography. ; J Child Neurol ; 1995 ; 10(4) ; 337-9
Jaksch ; M ; 3581* ; A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. ; Human Mutation ; 1996 ; 7(4) ; 358-360
James ; AM ; 3583 ; Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. ; Biochem J ; 1996 ; 318( Pt 2) ; 401-407
Jean-Francois ; MJ ; 1175* ; Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. ; Australian & New Zealand Journal of Medicine ; 1994 ; 24(2) ; 188-93
Johns ; DR ; 1234* ; MELAS syndrome masquerading as herpes simplex encephalitis. ; Neurology ; 1993 ; 43(12) ; 2471-3
Kaido ; M ; 3606* ; Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) ; Acta Neuropathol ; 1996 ; 92(3) ; 312-318
Kato ; T ; 5967 ; Photic stimulation-induced alteration of brain energy metabolism measured by 31P-MR spectroscopy in patients with MELAS [In Process Citation] ; J Neurol Sci ; 1998 ; 155(2) ; 182-5
Kaufmann ; P ; 3617* ; Mitochondrial DNA and RNA processing in MELAS. ; Ann Neurol ; 1996 ; 40(2) ; 172-180
Kim ; IO ; 3629* ; Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. ; AJR Am J Roentgenol ; 1996 ; 166(3) ; 641-645
Kimata ; KG ; 5981 ; A case of late-onset MELAS [In Process Citation] ; Arch Neurol ; 1998 ; 55(5) ; 722-5
Kimura ; M ; 5982 ; Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome. ; Pediatr Radiol ; 1997 ; 27(2) ; 153-4
Kishimoto ; M ; 598 ; Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene. ; Diabetologia ; 1995 ; 38(2) ; 193-200
Klimek ; A ; 5990 ; A case of mitochondrial myopathy with MELAS-like features and polyneuropathy: ultrastructural and molecular studies. ; Pol J Pathol ; 1997 ; 48(3) ; 197-200
Klopstock ; T ; 3642* ; Mitochondrial DNA in migraine with aura. ; Neurology ; 1996 ; 46(6) ; 1735-1738
Kobayashi ; Y. ; 107* ; The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(5) ; 803-8
Kobayashi ; Y ; 1000 ; Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). ; American Journal of Human Genetics ; 1991 ; 49(3) ; 590-9
Kodaka ; R ; 3647 ; A transcranial doppler ultrasonography study of cerebrovascular CO2 reactivity in mitochondrial encephalomyopathy. ; Stroke ; 1996 ; 27(8) ; 1350-1353
Koga ; Y ; 766 ; Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. ; Nucleic Acids Research ; 1993 ; 21(3) ; 657-62
Koga ; Y ; 574* ; Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNA(Leu(UUR)) gene. ; Muscle & Nerve ; 1995 ; Suppl 3 ; S119-23
Koga ; SJ ; 1042 ; MELAS syndrome. [Review] ; Western Journal of Medicine ; 1995 ; 163(4) ; 379-81
Kokawa ; N ; 5994 ; Pregnancy and delivery complicated by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ; Obstet Gynecol ; 1998 ; 91(5 Pt 2) ; 865
Koo ; B ; 1273* ; Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations. ; Annals of Neurology ; 1993 ; 34(1) ; 25-32
Kovalenko ; SA ; 3655* ; Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. ; Biochem Biophys Res Commun ; 1996 ; 222(2) ; 201-207
Kuroda ; Y ; 6007 ; Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. ; J Pediatr ; 1997 ; 131(3) ; 450-2
Lam ; CW ; 6009 ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. ; Eur J Pediatr ; 1997 ; 156(7) ; 562-4
Lee ; ML ; 665 ; Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): report of a sporadic case and review of the literature. ; Acta Paediatrica Sinica ; 1994 ; 35(2) ; 148-56
Leff ; AP ; 6015 ; Complex partial status epilepticus in late-onset MELAS. ; Epilepsia ; 1998 ; 39(4) ; 438-41
Lertrit ; P ; 966 ; A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I [see comments]. ; American Journal of Human Genetics ; 1992 ; 51(3) ; 457-68
Li ; JY ; 3701 ; MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. ; Acta Neurol Scand ; 1996 ; 93(6) ; 450-455
Liou ; CW ; 602* ; MELAS syndrome: correlation between clinical features and molecular genetic analysis. ; Acta Neurologica Scandinavica ; 1994 ; 90(5) ; 354-9
Love ; S ; 3722 ; Assessment of the distribution of mitochondrial ribosomal RNA in melas and in thrombotic cerebral infarcts by in situ hybridization. ; J Pathol ; 1996 ; 178(2) ; 182-189
Love ; S ; 741* ; Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS. ; Journal of Pathology ; 1993 ; 170(1) ; 9-14
Macmillan ; Carol ; 437* ; Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. ; Neurology ; 1993 ; 43(8) ; 1586-90
Majamaa ; K ; 3737* ; Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. ; Life Sci ; 1996 ; 58(8) ; 691-699
Majamaa ; K ; 6037 ; Metabolic interventions against complex I deficiency in MELAS syndrome. ; Mol Cell Biochem ; 1997 ; 174(1-2) ; 291-6
Majamaa ; K ; 6036 ; The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. ; Neurology ; 1997 ; 49(5) ; 1331-4
Manfredi ; G ; 3748* ; A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. ; Neuromuscul Disord ; 1995 ; 5(5) ; 391-398
Mariotti ; C ; 1068 ; Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. ; J Neurology ; 1995 ; 242(5) ; 304-12
Martinuzzi ; A ; 1331 ; Correlation between clinical and molecular features in two MELAS families. ; Journal of the Neurological Sciences ; 1992 ; 113(2) ; 222-9
Matsushita ; T ; 1225 ; Successful mitral valve replacement for MELAS. ; Pediatric Neurology ; 1993 ; 9(5) ; 391-3
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
Matthews ; PM ; 1036 ; Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. ; Neurology ; 1991 ; 41(7) ; 1043-6
McCarthy ; M ; 3784 ; Evaluation of the importance of maternal history of diabetes and of mitochondrial variation in the development of NIDDM. ; Diabet Med ; 1996 ; 13(5) ; 420-428
McEntagart ; M ; 6065 ; Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) in a Donegal kindred--clinical features and molecular genetic analysis. ; Ir Med J ; 1997 ; 90(4) ; 144-5
Melberg ; A ; 6072 ; Monozygotic twins with MELAS-like syndrome lacking ragged red fibers and lactacidaemia. ; Acta Neurol Scand ; 1996 ; 94(4) ; 233-41
Minamoto ; H ; 6080 ; Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes [see comments] ; Intern Med ; 1996 ; 35(12) ; 991-5
Miyabayashi ; S ; 1222* ; Clinical and biochemical phenotype of the MELAS mutation. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(5) ; 886-92
Miyabayashi ; S ; 1344 ; Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(5) ; 797-802
Miyamoto ; A ; 6087 ; Serial imaging in MELAS. ; Neuroradiology ; 1997 ; 39(6) ; 427-30
Molnar ; M ; 3812 ; Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. ; Neuropathology & Applied Neurobiology ; 1995 ; 21(5) ; 432-439
Montine ; TJ ; 3814 ; Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. ; Clin Neuropathol ; 1995 ; 14(6) ; 322-326
Moraes ; CT ; 971 ; The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. ; American Journal of Human Genetics ; 1992 ; 50(5) ; 934-49
Moraes ; CT ; 436* ; Mitochondrial tRNA-Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and Strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle ; Am J Hum Genet ; 1992 ; 50 ; 934-94
Moraes ; CT ; 1249 ; Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. ; Neuromuscular Disorders ; 1993 ; 3(1) ; 43-50
Morgan-Hughes ; JA ; 1094* ; Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 135-40
Morten ; KJ ; 3825 ; Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype. ; Human Molecular Genetics ; 1995 ; 4(9) ; 1689-1691
Moudy ; AM ; 1120 ; Abnormal calcium homeostasis and mitochondrial polarization in a human encephalomyopathy. ; Proc Natl Acad Sci USA ; 1995 ; 92(3) ; 729-33
Muller-Hocker ; J ; 728* ; Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. ; Archives of Pathology & Laboratory Medicine ; 1993 ; 117(2) ; 202-10
Nakamura ; M ; 1064* ; A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. ; Biochemical & Biophysical Research Communications ; 1995 ; 214(1) ; 86-93
Nicoll ; JA ; 727 ; Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. ; Clin Neuropathol ; 1993 ; 12(1) ; 38-43
Nishino ; I ; 3873* ; The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). ; Muscle & Nerve ; 1996 ; 19(12) ; 1603-1604
Obermaier-Kusser ; B ; 1001 ; Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]. ; FEBS Letters ; 1991 ; 286(1-2) ; 67-70
Odawara ; M ; 3883 ; Are MELAS and diabetes mellitus caused solely by the same mutation at np 3243 of the mitochondrial gene? ; Diabetologia ; 1995 ; 38(12) ; 1488-1490
Odawara ; M ; 1096 ; Mitochondrial gene mutation as a cause of insulin resistance [letter; comment]. ; Diabetes Care ; 1995 ; 18(2) ; 275
Oexle ; K ; 3887* ; Islet cell antibodies in diabetes mellitus associated with a mitochondrial tRNA(Leu(UUR)) gene mutation. ; Exp Clin Endocrinol Diabetes ; 1996 ; 104(3) ; 212-217
Ohkoshi ; N ; 1054* ; Superoxide dismutases of muscle in mitochondrial encephalomyopathies. ; Muscle & Nerve ; 1995 ; 18(11) ; 1265-71
Ohno ; K ; 3892* ; MELAS- and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy. ; Ann Neurol ; 1996 ; 39(6) ; 761-766
Ohno ; K ; 6133 ; MELAS presenting as migraine complicated by stroke: case report. ; Neuroradiology ; 1997 ; 39(11) ; 781-4
Ohta ; S ; 3893 ; Genetic diagnosis of mitochondrial diseases ; Nippon Ika Daigaku Zasshi ; 1995 ; 62(5) ; 516-519
Onishi ; Hideki ; 279* ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study ; Journal of the Neurological Sciences ; 1993 ; 114(2) ; 205-8
Onuma ; T ; 1228* ; Studies of mitochondria DNA in progressive myoclonus epilepsy (PME) and a case of atypical MELAS. ; Japanese Journal of Psychiatry & Neurology ; 1993 ; 47(2) ; 315-7
Pallotti ; F ; 3917* ; Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. ; Am J Hum Genet ; 1996 ; 59(3) ; 591-602
Penn ; AM ; 1341 ; MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin. ; Neurology ; 1992 ; 42(11) ; 2147-52
Peterson ; PL ; 1087* ; The treatment of mitochondrial myopathies and encephalomyopathies. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 275-80
Poulton ; J ; 1274* ; Noninvasive diagnosis of the MELAS syndrome from blood DNA [letter]. ; Annals of Neurology ; 1993 ; 34(1) ; 116
Remes ; AM ; 1287* ; Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation. ; Neurology ; 1993 ; 43(5) ; 1015-20
Robeck ; S ; 3992 ; Follow-up studies and disorders of endocrinologic function in MELAS syndrome ; Nervenarzt ; 1996 ; 67(6) ; 465-470
Rodriguez ; G ; 3997* ; Cerebral hyperperfusion antedates by years strokelike episodes in the MELAS syndrome ; Stroke ; 1996 ; 27(2) ; 341-342
Rummelt ; V ; 1232 ; Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. ; Ophthalmology ; 1993 ; 100(12) ; 1757-66
Rusanen ; H ; 580* ; Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR)) mutation at base pair 3243 of the mitochondrial DNA. ; Neurology ; 1995 ; 45(6) ; 1188-92
Saijo ; T ; 1015 ; Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS. ; Neuropediatrics ; 1991 ; 22(3) ; 166-7
Saitoh ; S ; 6201 ; Effects of dichloroacetate in three patients with MELAS. ; Neurology ; 1998 ; 50(2) ; 531-4
Saitoh ; S ; 798 ; Cortical reflex myoclonus associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): a case report. ; Brain & Development ; 1992 ; 14(4) ; 260-3
Sakuta ; R ; 753* ; Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study. ; Journal of the Neurological Sciences ; 1993 ; 115(2) ; 158-60
Sano ; M ; 4023* ; Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome. ; Acta Neurol Scand ; 1995 ; 92(6) ; 497-502
Santorelli ; FM ; 6205 ; Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. ; Biochem Biophys Res Commun ; 1997 ; 238(2) ; 326-8
Sato ; W ; 830 ; Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) [letter]. ; American Journal of Human Genetics ; 1992 ; 50(3) ; 655-7
Sato ; W ; 622* ; A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Biochemistry & Molecular Biology International ; 1994 ; 33(6) ; 1055-61
Satoh ; M ; 1038 ; N-isopropyl-p-[123I]iodoamphetamine SPECT in MELAS syndrome: comparison with CT and MR imaging. ; Journal of Computer Assisted Tomography ; 1991 ; 15(1) ; 77-82
Serra ; G ; 4060 ; Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. ; Brain Dev ; 1996 ; 18(3) ; 185-191
Shanske ; AL ; 1248 ; MELAS point mutation with unusual clinical presentation. ; Neuromuscular Disorders ; 1993 ; 3(3) ; 191-3
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