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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
Abe ; K ; 5672 ; Measurement of tissue oxygen consumption in patients with mitochondrial myopathy by noninvasive tissue oximetry. ; Neurology ; 1997 ; 49(3) ; 837-41
Adams ; R.D. ; 299* ; Subacute Necrotizing Encephalomyelopathy ; Neurology of hereditary metabolic diseases in children ; 1982 ; ; 73-82
Agapitos ; E ; 5675 ; Subacute necrotizing encephalomyelopathy (Leigh's disease): a clinicopathologic study of ten cases. ; Gen Diagn Pathol ; 1997 ; 142(5-6) ; 335-41
Alcolado ; JC ; 3118 ; Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects. ; Diabet Med ; 1995 ; 12(2) ; 102-108
Anan ; R ; 608* ; Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects [see comments]. ; Circulation ; 1995 ; 91(4) ; 955-61
Andersson ; JE ; 3127 ; Wernicke's encephalopathy ; Ugeskr Laeger ; 1996 ; 158(7) ; 898-901
Anonymous ; ; 1521 ; Mitochondrial encephalomyopathies: gene mutation. ; Neuromuscular Disorders ; 1995 ; 5(4) ; V-VI
Anonymous ; ; 1071* ; Mitochondrial encephalomyopathies: gene mutation. ; Neuromuscular Disorders ; 1995 ; 5(3) ; V-VI
Anonymous ; ; 1113* ; Mitochondrial encephalomyopathies: gene mutation. ; Neuromuscular Disorders ; 1995 ; 5(1) ; IX-XII
Arai ; Y. ; 197* ; Characteristic changes on brain CT in a case of Leigh encephalopathy with deficiency of pyruvate dehydrogenase ; Brain & Development ; 1991 ; 13(6) ; 457-8
Argov ; Z ; 5689 ; Functional evaluation techniques in mitochondrial disorders. ; Eur Neurol ; 1998 ; 39(2) ; 65-71
Argov ; Z ; 5688 ; Muscle high-energy phosphates in central nervous system disorders. The phosphorus MRS experience. ; Ital J Neurol Sci ; 1997 ; 18(6) ; 353-7
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
Barletta ; L ; 3172 ; Encephalitis lethargica ; Nervenarzt ; 1995 ; 66(10) ; 781-784
Batori ; M ; 3183 ; Wernicke's encephalopathy post subtotal extended gastrectomy. ; Riv Eur Sci Med Farmacol ; 1995 ; 17(2-3) ; 81-83
Beal ; MF ; 5710 ; Mitochondria, free radicals, and neurodegeneration. ; Curr Opin Neurobiol ; 1996 ; 6(5) ; 661-6
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
Bentlage ; H ; 605* ; Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. ; Eur J Biochem ; 1995 ; 227(3) ; 909-15
Bettendorff ; L ; 3204 ; Thiamine deficiency--induced partial necrosis and mitochondrial uncoupling in neuroblastoma cells are rapidly reversed by addition of thiamine. ; J Neurochem ; 1995 ; 65(5) ; 2178-2184
Bhavsar ; VM ; 2520 ; Leigh's subacute necrotizing encephalomyelopathy: possible diagnosis by C.T. scan. ; Indian Journal of Pediatrics ; 1991 ; 58(3) ; 375-7
Bidooki ; SK ; 5717 ; Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. ; Am J Hum Genet ; 1997 ; 60(6) ; 1430-8
Bindoff ; LA ; 2312 ; Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. [Review] ; Journal of the Neurological Sciences ; 1991 ; 102(1) ; 17-24
Bittigau ; P ; 5719 ; Glutamate in neurologic diseases. ; J Child Neurol ; 1997 ; 12(8) ; 471-85
Blatt ; J ; 479* ; Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy. ; British Journal of Haematology ; 1994 ; 86(1) ; 207-9
Bonilla ; E ; 1317 ; New morphological approaches to the study of mitochondrial encephalomyopathies. [Review] ; Brain Pathology ; 1992 ; 2(2) ; 113-9
Bourne ; AJ ; 480* ; Subacute necrotizing encephalomyelopathy (Leigh's disease) [letter; comment] Comment on: J Paediatr Child Health 1993 Oct;29(5):363-7 ; Journal of Paediatrics & Child Health ; 1994 ; 30(3) ; 283-5
Bowen ; J ; 5737 ; MR imaging and proton MR spectroscopy in A-to-G substitution at nucleotide position 3243 of leucine transfer RNA. ; AJNR Am J Neuroradiol ; 1998 ; 19(2) ; 231-4
Briones ; P ; 5740 ; A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. ; J Inherit Metab Dis ; 1997 ; 20(4) ; 569-77
Bruyn ; GW ; 2200 ; Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. ; Journal of the Neurological Sciences ; 1991 ; 103(2) ; 195-202
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 ; 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
Caparros-Lefebvre ; D ; 5751 ; Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system? ; J Neurol Neurosurg Psychiatry ; 1997 ; 63(2) ; 196-203
Carroll ; JC ; 1039* ; Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. ; Archives of Physical Medicine & Rehabilitation ; 1995 ; 76(11) ; 1014-6
Carroll ; PV ; 5755 ; Growth hormone therapy may benefit protein metabolism in mitochondrial encephalomyopathy. ; Clin Endocrinol (Oxf) ; 1997 ; 47(1) ; 113-7
Carrozzo ; R ; 5756 ; Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. ; Neurology ; 1998 ; 50(1) ; 99-106
Castillo ; M ; 594* ; MELAS syndrome: imaging and proton MR spectroscopic findings. ; Ajnr: American Journal of Neuroradiology ; 1995 ; 16(2) ; 233-9
Castro-Gago ; M ; 3278* ; Severe myoclonic epilepsy associated with mitochondrial cytopathy. ; Childs Nerv Syst ; 1995 ; 11(11) ; 630-633
Chalmers ; RM ; 5764 ; Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. ; J Neurol Sci ; 1996 ; 143(1-2) ; 41-5
Chang ; TS ; 1259* ; Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes. ; Archives of Ophthalmology ; 1993 ; 111(9) ; 1254-62
Checcarelli ; N ; 1403* ; Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. ; Journal of the Neurological Sciences ; 1994 ; 123(1-2) ; 74-9
Cheminal ; R ; 3289 ; Congenital non-progressive encephalopathy and deafness with intermittent episodes of coma and hyperkynureninuria. ; J Inherit Metab Dis ; 1996 ; 19(1) ; 25-30
Chen ; X ; 1090* ; Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 229-33
Chen ; CM ; 1309 ; Hypothalamic amenorrhea in a case of mitochondrial encephalomyopathy. ; Journal of the Formosan Medical Association ; 1992 ; 91(12) ; 1195-9
Chen ; RS ; 5770 ; Coenzyme Q10 treatment in mitochondrial encephalomyopathies. Short-term double-blind, crossover study. ; Eur Neurol ; 1997 ; 37(4) ; 212-8
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
Chu ; CC ; 5781 ; Peripheral neuropathy in mitochondrial encephalomyopathies. ; Eur Neurol ; 1997 ; 37(2) ; 110-5
Chuang ; LM ; 3300 ; Mitochondrial gene mutations in patients with insulin-dependent diabetes mellitus in Taiwan. ; Pancreas ; 1996 ; 12(3) ; 243-247
Ciccotelli ; KK ; 5782 ; An adult with inherited mitochondrial encephalomyopathy: report of a case. ; Anesthesiology ; 1997 ; 87(5) ; 1240-2
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
Collombet ; JM ; 5788 ; Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies. ; Mol Cell Biochem ; 1997 ; 168(1-2) ; 73-85
Crimmins ; D ; 1264* ; Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1993 ; 56(8) ; 900-5
Dabbagh ; O ; 486* ; The clinical spectrum of biotin-treatable encephalopathies in Saudi Arabia. ; Brain & Development ; 1994 ; 16 Suppl ; 72-80
Daimon ; M ; 3329 ; Procedure to identify gene abnormalities responsible for genetically inherited disease such as porphyrias ; Nippon Rinsho ; 1995 ; 53(6) ; 1402-1407
Damian ; MS ; 5803 ; Follow-up in carriers of the 'MELAS' mutation without strokes. ; Eur Neurol ; 1998 ; 39(1) ; 9-15
Davis ; PC ; 111* ; MR of Leigh's disease (subacute necrotizing encephalomyelopathy) ; AJNR ; 1987 ; 8 ; 71-5
Davison ; FD ; 3336 ; Mitochondrial DNA levels in the brain of HIV-positive patients after zidovudine therapy ; J Neurology ; 1996 ; 243(9) ; 648-651
Dayan ; AD ; 88* ; Necrotizing encephalomyelopathy of Leigh's neuropathological findings in 8 cases ; Arch Dis Child ; 1970 ; 45 ; 39-48
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 Meirleir ; L ; 487 ; Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. ; Pediatr Res ; 1994 ; 36(6) ; 707-12
De Vivo ; D.C. ; 424* ; Necrotizing Encephalomyelopathy and Lactic Acidosis ; Merritt's Textbook of Neurology ; 1989 ; ; 562-4
De Vivo ; DC ; 383* ; Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease) ; Annals of Neurology ; 1979 ; 6 ; 483-94
de Vries ; DD ; 1208* ; Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies. ; Journal of Inherited Metabolic Disease ; 1993 ; 16(3) ; 534-6
Degoul ; F ; 682* ; Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation. ; Annals of Neurology ; 1994 ; 35(3) ; 365-70
Di Donato ; S ; 5817 ; Cellular models for pathogenesis in mitochondrial diseases [editorial] ; Curr Opin Neurol ; 1996 ; 9(6) ; 469-72
Di Trapani ; G ; 5819 ; Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ; Clin Neuropathol ; 1997 ; 16(4) ; 195-200
Dimauro ; S. ; 232* ; Mitochondrial Encephalomyopathies: Biochemical Approach ; Rev Neurol (Paris) ; 1991 ; 147(6-7) ; 443-9
DiMauro ; S ; 1318 ; Mitochondrial encephalomyopathies. [Review] ; Brain Pathology ; 1992 ; 2(2) ; 111-2
DiMauro ; Salvatore ; 259* ; Mitochondrial Encephalomyopathies ; Mitochondrial Disorders ; ; ; 665-87
DiMauro ; S ; 5821 ; Mitochondrial disorders. ; Jpn J Hum Genet ; 1997 ; 42(4) ; 473-87
DiMauro ; S ; 714* ; Mitochondrial encephalomyopathies. [Review] ; Archives of Neurology ; 1993 ; 50(11) ; 1197-208
Dionisi-Vici ; C ; 5822 ; New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. ; Ann Neurol ; 1997 ; 42(4) ; 661-5
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
Egger ; J. ; 69* ; Mitochondrial Cytopathy or Leigh's Syndrome? Mitochondrial Abnormalities in Spongiform Encephalopathies ; Neuropediatrics ; 1982 ; 13 ; 219-224
Enriquez ; JA ; 1378* ; MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. ; Nature Genetics ; 1995 ; 10(1) ; 47-55
Evans ; OB ; 384* ; Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy ; Arch Neurol ; 1981 ; 38 ; 515-9
Eymard ; B ; 1334 ; Mitochondrial encephalomyopathies. [Review] ; Current Opinion in Neurology & Neurosurgery ; 1992 ; 5(6) ; 909-16
Fabrizi ; GM ; 3405 ; Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. ; J Neurology ; 1995 ; 242(8) ; 490-496
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
Farmer ; T.W. ; 549 ; Pyruvate decarboxylase deficiency in a patient with subacute necrotizing encephalomyelopathy ; Neurology (Minneap) ; 1973 ; 23 ; 429
Flierl ; A ; 5856 ; Pathophysiology of the MELAS 3243 transition mutation. ; J Biol Chem ; 1997 ; 272(43) ; 27189-96
Fox ; C ; 1221 ; Corticosteroid responsive mitochondrial encephalomyopathy [letter]. ; Australian & New Zealand Journal of Medicine ; 1993 ; 23(5) ; 522-3
Freeman ; John Mark ; 265* ; Encephalopathy Necrotizing ; ; ; ; 344
Fu ; K ; 5867 ; A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. ; Hum Mol Genet ; 1996 ; 5(11) ; 1835-40
Fujii ; T ; 1073* ; 123I-IMP SPECT findings in mitochondrial encephalomyopathies. ; Brain Dev ; 1995 ; 17(2) ; 89-94
Funakawa ; I ; 5870 ; Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy. ; Electroencephalogr Clin Neurophysiol ; 1997 ; 103(3) ; 370-5
Gaggero ; R ; 5872 ; Early-onset progressive encephalopathy with migrant, continuous myoclonus. ; Childs Nerv Syst ; 1996 ; 12(5) ; 254-61
Garcia-Silva ; MT ; 5874 ; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. ; Pediatr Neurol ; 1997 ; 17(2) ; 165-70
Garcia-Silva ; MT ; 1469* ; Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency [letter; comment]. ; Journal of Pediatrics ; 1994 ; 125(5 Pt 1) ; 843-4
Gellera ; C ; 2761 ; Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. ; Neurology ; 1990 ; 40(3 Pt 1) ; 495-9
Gerbitz ; K D ; 374* ; Mutations of the miochondrial DNA: the contribution of DNA techniques to the diagnosis of mitochondrial encephalomyopathies ; J of Clinical Chemistry & Clinical Biochemistry ; 1990 ; 28(4) ; 241-50
Geyer ; CA ; 380* ; Leigh disease (subacute necrotizing encephalomyelopathy): CT and MR in five cases ; J Comput Assist Tomogr ; 1988 ; 12 ; 40-4
Gilbert ; EF ; 385* ; Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency ; Archives of Pathology and Laboratory Medicine ; 1983 ; 197 ; 162-6
Goebel ; H.H. ; 297* ; Sural nerve biopsy studies in Leigh's subacute necrotizing encephalomyelopathy ; Muscle Nerve ; 1986 ; 9 ; 165-73
Gogus ; S ; 330 ; Subacute necrotizing encephalopathy (Leigh syndrome): report of two juvenile cases with fatal outcome. ; Turk J Pediatr ; 1994 ; 36(1) ; 57-65
Gold ; R ; 3454* ; Phosphorus magnetic resonance spectroscopy in the evaluation of mitochondrial myopathies: results of a 6-month therapy study with coenzyme Q. ; Eur Neurol ; 1996 ; 36(4) ; 191-196
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 ; 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 ; 3466 ; Mitochondrial encephalomyopathies: 3243 mutation as a central matter ; Rinsho Shinkeigaku ; 1995 ; 35(12) ; 1425-1426
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
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Grattan-Smith ; JD ; 5888 ; MR of the brain in children. ; Top Magn Reson Imaging ; 1996 ; 8(4) ; 193-213
Greene ; CL ; 5889 ; Catastrophic metabolic encephalopathies in the newborn period. Evaluation and management. ; Clin Perinatol ; 1997 ; 24(4) ; 773-86
Grover ; WD ; 451* ; Biochemical studies and therapy in subacute necrotizing encephalomyelopathy (Leigh's syndrome) ; J Pediatr ; 1979 ; 81 ; 39
Grunnet ; M.L. ; 295* ; Juvenile Leigh's encephalomyelopathy with peripheral neuropathy, myopathy, and cardiomyopathy. ; Journal of Child Neurology ; 1991 ; 6(2) ; 159-63
Gurevitch ; J ; 956* ; D-lactic acidosis: a treatable encephalopathy in pediatric patients. ; Acta Paediatrica ; 1993 ; 82(1) ; 119-21
Haas ; RH ; 2649* ; Lactic Acidosis / Mitochondrial Encephalomyopathies and other Mitochondrial Cytopathies ; ; 1994 ; ; 1-16
Haferkamp ; O ; 5900 ; Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations. ; Clin Neuropathol ; 1998 ; 17(2) ; 85-94
Haginoya ; K. ; 274* ; Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy ; Acta Neuropathologica ; 1993 ; 85(4) ; 370-7
Hall ; K. ; 73* ; CT Scan Appearances in Leigh's Disease (Subacute Necrotizing Encephalomyelopathy) ; Neuroradiology ; 1978 ; 16 ; 48-50
Hammans ; S.R. ; 23* ; A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies [published erratum appears in Brain 1993 Feb;116(Pt 1):following 306]. ; Brain ; 1992 ; 115 ( Pt 2) ; 343-365
Hammans ; SR ; 578* ; The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study. ; Brain ; 1995 ; 118 ( Pt 3) ; 721-34
Hammans ; SR ; 1004 ; Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples [see comments]. ; Lancet ; 1991 ; 337(8753) ; 1311-3
Handran ; SD ; 5905 ; Mitochondrial morphology and intracellular calcium homeostasis in cytochrome oxidase-deficient human fibroblasts. ; Neurobiol Dis ; 1997 ; 3(4) ; 287-98
Hanna ; MG ; 592* ; Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation. ; American Journal of Human Genetics ; 1995 ; 56(5) ; 1026-33
Hanna ; MG ; 5907 ; Movement disorders and mitochondrial dysfunction. ; Curr Opin Neurol ; 1997 ; 10(4) ; 351-6
Hansen ; LK ; 3500 ; Mitochondrial encephalomyopathies ; Ugeskr Laeger ; 1995 ; 157(47) ; 6565-6567
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
Heckmann ; JM ; 333* ; Leigh disease (subacute necrotizing encephalomyelopathy): MR documentation of the evolution of an acute attack. ; Ajnr: American Journal of Neuroradiology ; 1993 ; 14(5) ; 1157-9
Hilton ; G ; 3520* ; MELAS: a mitochondrial encephalomyopathy syndrome. ; J Neurosci Nurs ; 1995 ; 27(5) ; 278-282
Hirai ; M ; 3521 ; Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus. ; Biochem Biophys Res Commun ; 1996 ; 219(3) ; 951-955
Hirano ; M ; 1191* ; Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. ; Neurology ; 1994 ; 44(4) ; 721-7
Hirano ; M ; 677 ; Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. [Review] ; J Child Neurol ; 1994 ; 9(1) ; 4-13
Hiruta ; Y ; 3523 ; Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. ; Internal Medicine ; 1995 ; 34(7) ; 670-673
Hoon Jr ; AH ; 5928 ; Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic-metabolic from acquired causes. ; J Pediatr ; 1997 ; 131(2) ; 240-5
Hou ; JW ; 3535* ; Metabolic function and liver histopathology in Reye-like illnesses. ; Acta Paediatr ; 1996 ; 85(9) ; 1053-1057
Houshmand ; M ; 674* ; Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. ; Biochimica et Biophysica Acta ; 1994 ; 1226(1) ; 49-55
Houstek ; J ; 883* ; Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. ; Biochimica et Biophysica Acta ; 1995 ; 1271(2-3) ; 349-57
Howard ; RS ; 1102 ; Management of mitochondrial disease on an intensive care unit. ; QJM ; 1995 ; 88(3) ; 197-207
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 ; 3546* ; Random mitotic segregation of mitochondrial DNA in MELAS syndrome. ; Acta Neurol Scand ; 1996 ; 93(2-3) ; 198-202
Huang ; CC ; 556* ; Mitochondrial encephalomyopathies: CT and MRI findings and correlations with clinical features. ; Eur Neurol ; 1995 ; 35(4) ; 199-205
Huckriede ; A ; 630* ; Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy. ; Biochimica et Biophysica Acta ; 1994 ; 1227(3) ; 200-6
Hwang ; JM ; 5934 ; Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation. ; Ophthalmic Genet ; 1997 ; 18(2) ; 101-5
Ihara ; Y ; 5936 ; Free radicals in the cerebrospinal fluid are associated with neurological disorders including mitochondrial encephalomyopathy. ; Biochem Mol Biol Int ; 1997 ; 42(5) ; 937-47
Inbal ; A ; 591* ; Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. ; American Journal of Medical Genetics ; 1995 ; 55(3) ; 372-8
Inui ; K ; 983 ; Detection of the A to G(3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalomyopathies. ; Journal of Inherited Metabolic Disease ; 1992 ; 15(3) ; 311-4
Inui ; K. ; 221* ; Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNA(Leu(UUR)) gene. ; Journal of Pediatrics ; 1992 ; 120(1) ; 62-6
Isashiki ; Y ; 5940 ; Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. ; Acta Ophthalmol Scand ; 1998 ; 76(1) ; 6-13
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
Jackson ; MJ ; 589* ; Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. ; Brain ; 1995 ; 118 ( Pt 2) ; 339-57
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
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
Jinnai ; K ; 2712 ; A case of mitochondrial myopathy, encephalopathy and lactic acidosis due to cytochrome c oxidase deficiency with neurogenic muscular changes. ; Eur Neurol ; 1990 ; 30(1) ; 56-60
Johns ; DR ; 1234* ; MELAS syndrome masquerading as herpes simplex encephalitis. ; Neurology ; 1993 ; 43(12) ; 2471-3
Kagawa ; Y ; 5961 ; Genes of human ATP synthase: their roles in physiology and aging. ; Biosci Rep ; 1997 ; 17(2) ; 115-46
Kaido ; M ; 1046* ; Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. ; Journal of the Neurological Sciences ; 1995 ; 131(2) ; 170-6
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
Kamphorst ; W ; 3613 ; A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis. ; Clin Neuropathol ; 1995 ; 14(4) ; 211-215
Kao ; KP ; 669* ; Mitochondrial disease with encephalopathy or limb girdle myopathy: a report of five cases. ; Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal ; 1994 ; 53(3) ; 173-8
Karpati ; G. ; 231* ; Correlative multidisciplinary Approach to the Study of Mitochondrial Encephalomyopathies ; Rev Neurol (Paris) ; 1991 ; 147(6-7) ; 455-61
Kartsonnis ; L.D. ; 26* ; The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies ; Archives of Neurology ; 1992 ; 49 ; 159-160
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
Kawai ; H ; 1098* ; Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. [Review] ; Muscle & Nerve ; 1995 ; 18(7) ; 753-60
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 ; S ; 5983 ; Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy. ; Brain Dev ; 1997 ; 19(8) ; 535-40
Kimura ; M ; 5982 ; Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome. ; Pediatr Radiol ; 1997 ; 27(2) ; 153-4
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