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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
Adams ; R.D. ; 299* ; Subacute Necrotizing Encephalomyelopathy ; Neurology of hereditary metabolic diseases in children ; 1982 ; ; 73-82
Adams ; PL ; 5673 ; Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. ; Ann Neurol ; 1997 ; 41(2) ; 268-70
Agapitos ; E ; 5675 ; Subacute necrotizing encephalomyelopathy (Leigh's disease): a clinicopathologic study of ten cases. ; Gen Diagn Pathol ; 1997 ; 142(5-6) ; 335-41
Anderson ; LA ; 5678 ; Zinc acetate treatment in Wilson's disease. ; Ann Pharmacother ; 1998 ; 32(1) ; 78-87
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
Araki ; S ; 5685 ; Electrophysiological brainstem dysfunction in a child with Leigh disease. ; Pediatr Neurol ; 1997 ; 16(4) ; 329-33
Ariga ; H ; 3146 ; Leigh syndrome: serial CT and MR imaging findings ; Nippon Igaku Hoshasen Gakkai Zasshi ; 1996 ; 56(12) ; 839-845
Armstrong ; RW ; 5690 ; Intrathecally administered baclofen for treatment of children with spasticity of cerebral origin. ; J Neurosurg ; 1997 ; 87(3) ; 409-14
Balaji ; P ; 3166 ; Evaluation of vascular and metabolic deficiency in patients with large leg ulcers. ; Ann R Coll Surg Engl ; 1995 ; 77(4) ; 270-272
Bhavsar ; VM ; 2520 ; Leigh's subacute necrotizing encephalomyelopathy: possible diagnosis by C.T. scan. ; Indian Journal of Pediatrics ; 1991 ; 58(3) ; 375-7
Blatt ; J ; 479* ; Pancytopenia and vacuolation of marrow precursors associated with necrotizing encephalopathy. ; British Journal of Haematology ; 1994 ; 86(1) ; 207-9
Bourgeron ; T ; 2885* ; Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. ; Nat Genet ; 1995 ; 11(2) ; 144-9
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
Bradley ; ; 426* ; Leigh's Disease ; Neurology in Clinical Practice: Principles of Diagnosis and Management ; 1991 ; ; 1286
Briones ; P ; 3245 ; Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy ; J Inherit Metab Dis ; 1996 ; 19(6) ; 795-796
Brockington ; M ; 1055* ; Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. ; Journal of the Neurological Sciences ; 1995 ; 131(1) ; 78-87
Broide ; E ; 5741 ; Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction. ; Pediatr Neurol ; 1997 ; 17(4) ; 353-5
Burgeois ; M ; 2493 ; Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome. ; Brain & Development ; 1992 ; 14(6) ; 404-8
Campos ; Y ; 5749 ; Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. ; Neurology ; 1997 ; 49(2) ; 595-7
Cavanagh ; JB ; 515* ; Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. ; Brain ; 1994 ; 117 ( Pt 6) ; 1357-76
Cavanagh ; JB ; 2426 ; Is Purkinje cell loss in Leigh's disease an excitotoxic event secondary to damage to inferior olivary nuclei?. ; Neuropathology & Applied Neurobiology ; 1994 ; 20(6) ; 599-603
Chabrol ; B ; 2447 ; Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. ; J Child Neurol ; 1994 ; 9(1) ; 52-5
Chalmers ; RM ; 5766 ; A mitochondrial DNA tRNA(Val) point mutation associated with adult- onset Leigh syndrome. ; Neurology ; 1997 ; 49(2) ; 589-92
Chi ; CS ; 485* ; Leigh syndrome with progressive ventriculomegaly. ; Pediatric Neurology ; 1994 ; 10(3) ; 244-6
Ciafaloni ; E ; 325* ; Maternally inherited Leigh syndrome. ; Journal of Pediatrics ; 1993 ; 122(3) ; 419-22
Coker ; SB ; 326* ; Leigh disease presenting as Guillain-Barre syndrome. ; Pediatric Neurology ; 1993 ; 9(1) ; 61-3
Coker ; SB ; 2410 ; Connatal Leigh disease. ; Clinical Pediatrics ; 1995 ; 34(7) ; 349-52
Craigen ; WJ ; 3321 ; Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. ; Pediatric Neurology ; 1996 ; 14(1) ; 69-71
Davis ; PC ; 111* ; MR of Leigh's disease (subacute necrotizing encephalomyelopathy) ; AJNR ; 1987 ; 8 ; 71-5
Dayan ; AD ; 88* ; Necrotizing encephalomyelopathy of Leigh's neuropathological findings in 8 cases ; Arch Dis Child ; 1970 ; 45 ; 39-48
de Leon ; MJ ; 3340 ; The hippocampus in aging and Alzheimer's disease. ; Neuroimaging Clin N Am ; 1995 ; 5(1) ; 1-17
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 ; DC ; 379* ; Leigh's syndrome and cytochrome c oxidase deficiency ; Annals of Neurology ; 1987 ; 22 ; 445
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 ; D. Danielle ; 302* ; A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. ; Annals of Neurology ; 1993 ; 34 ; 410-2
Degoul ; F ; 5814 ; A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 49-53
Detre ; JA ; 329* ; Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy. ; Annals of Neurology ; 1991 ; 29(2) ; 218-21
DiMauro ; S ; 3357* ; Genetic heterogeneity in Leigh syndrome ; Ann Neurol ; 1996 ; 40(1) ; 5-7
DiMauro ; S ; 378* ; Cytochrome c oxidase deficiency in Leigh syndrome ; Annals of Neurology ; 1987 ; 22 ; 498-506
Dionisi-Vici ; C ; 5823 ; Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. ; J Inherit Metab Dis ; 1998 ; 21(1) ; 2-8
Egger ; J. ; 69* ; Mitochondrial Cytopathy or Leigh's Syndrome? Mitochondrial Abnormalities in Spongiform Encephalopathies ; Neuropediatrics ; 1982 ; 13 ; 219-224
Elia ; M ; 3385 ; Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua. ; Brain Dev ; 1996 ; 18(3) ; 207-211
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
Farmer ; T.W. ; 549 ; Pyruvate decarboxylase deficiency in a patient with subacute necrotizing encephalomyelopathy ; Neurology (Minneap) ; 1973 ; 23 ; 429
Ferlin ; T ; 5846 ; Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome. ; J Pediatr ; 1997 ; 131(3) ; 447-9
Freeman ; John Mark ; 265* ; Encephalopathy Necrotizing ; ; ; ; 344
Fromenty ; B ; 5866 ; High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. ; Am J Med Genet ; 1997 ; 71(4) ; 443-52
Fujii ; T ; 1073* ; 123I-IMP SPECT findings in mitochondrial encephalomyopathies. ; Brain Dev ; 1995 ; 17(2) ; 89-94
Fujii ; T ; 447* ; Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome ; J Pediatr ; 1990 ; 116(1) ; 84-7
Garcia-Silva ; MT ; 5874 ; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. ; Pediatr Neurol ; 1997 ; 17(2) ; 165-70
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
Graeber ; MB ; 5886 ; Recent developments in the molecular genetics of mitochondrial disorders. ; J Neurol Sci ; 1998 ; 153(2) ; 251-63
Gratten-Smith ; P J ; 373* ; Acute respiratory failure precipitated by general anesthesia in Leigh's syndrome ; J Child Neurol ; 1990 ; 5(2) ; 137-41
Greenberg ; S.B. ; 22* ; Respiratory insufficiency following chloral hydrate sedation in two children with Leigh disease ; Pediatric Radiology ; 1990 ; 20 ; 287-288
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
Haferkamp ; O ; 671* ; Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis. ; Human Pathology ; 1994 ; 25(4) ; 419-23
Hall ; K. ; 73* ; CT Scan Appearances in Leigh's Disease (Subacute Necrotizing Encephalomyelopathy) ; Neuroradiology ; 1978 ; 16 ; 48-50
Hanna ; MG ; 5907 ; Movement disorders and mitochondrial dysfunction. ; Curr Opin Neurol ; 1997 ; 10(4) ; 351-6
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
Heckmann ; H ; 2515 ; Leigh's disease with clinical manifestations of Cornelia de Lange syndrome. ; Pediatric Neurosurgery ; 1991 ; 17(4) ; 192-5
Ho ; VB ; 3525* ; Juvenile Huntington disease: CT and MR features. ; AJNR Am J Neuroradiol ; 1995 ; 16(7) ; 1405-1412
Holme ; E ; 1088* ; Inheritance and expression of mitochondrial DNA point mutations. ; Biochimica et Biophysica Acta ; 1995 ; 1271(1) ; 249-52
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
Howell ; N ; 3541* ; Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. ; Neurology ; 1996 ; 46(1) ; 219-222
Huang ; MY ; 3547 ; Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease. ; J Formos Med Assoc ; 1996 ; 95(4) ; 325-328
Huang ; WY ; 3548 ; Leigh syndrome presenting with dystonia: report of one case. ; Acta Paediatr Sin ; 1995 ; 36(5) ; 378-381
Jacobs ; J.M. ; 68* ; Peropheral Neuropathy in Leigh's Disease ; Brain ; 1990 ; 113 ; 447-62
Johnson ; DL ; 336 ; Leigh's disease presenting as an intramedullary mass lesion. ; Neurosurgery ; 1992 ; 30(5) ; 774-6
Jung ; KC ; 1236* ; Leigh's disease involving multiple organs. ; Journal of Korean Medical Science ; 1993 ; 8(3) ; 214-20
Kadenbach ; B ; 3605* ; Regulation of mitochondrial energy generation in health and disease. ; Biochim Biophys Acta ; 1995 ; 1271(1) ; 103-109
Kimura ; S ; 3631* ; Improvement of lesions shown on MRI and CT scan by administration of dichloroacetate in patients with Leigh syndrome. ; J Neurol Sci ; 1995 ; 134(1-2) ; 103-107
Kimura ; S ; 5983 ; Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy. ; Brain Dev ; 1997 ; 19(8) ; 535-40
Kimura ; S ; 2524 ; Myelin splitting in the spongy lesion in Leigh encephalopathy. ; Pediatric Neurology ; 1991 ; 7(1) ; 56-8
Koch ; T.K. ; 298* ; Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease) ; Annals of Neurology ; 1986 ; 19 ; 605-8
Koga ; Yasutoshi ; 70* ; Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy ; Journal of the Neurological Sciences ; 1990 ; 95 ; 63-76
Korzets ; A ; 3651 ; Acute necrotizing pancreatitis, lactic acidosis and prolonged hypoglycemia in a hemodialysed patient--a logical but unfortunately fatal combination. ; Clin Nephrol ; 1996 ; 45(6) ; 410-412
Krageloh-Mann ; Ingeborg ; 28* ; Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy. ; Pediatric Neurology ; 1992 ; 8(1) ; 60-64
Krageloh-Mann ; I ; 340* ; Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency. ; Developmental Medicine & Child Neurology ; 1993 ; 35(9) ; 769-76
Kretzschmar ; Hans A. ; 263* ; Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease) ; Pediatrics ; 1987 ; 79(3) ; 370-3
Kruse ; B ; 495* ; Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency [letter; comment] Comment on: Dev Med Child Neurol 1993 Sep;35(9):769-76 ; Developmental Medicine & Child Neurology ; 1994 ; 36(9) ; 839-43
Lee ; N ; 6014 ; Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc. ; Biochim Biophys Acta ; 1998 ; 1406(1) ; 1-4
Leigh ; Denis ; 72* ; Subacute Necrotizing Encephalomyelopathy in an Infant ; J. Neurol. Neurosurg. Psychiat. ; 1951 ; 14 ; 216-221
Lera ; G ; 497* ; Dystonia as the major manifestation of Leigh's syndrome. ; Movement Disorders ; 1994 ; 9(6) ; 642-9
Lindboe ; CF ; 498* ; Neuronal degeneration in subacute necrotizing encephalomyelopathy (Leigh's disease). Case report. ; APMIS ; 1995 ; 103(1) ; 54-8
Lombes ; A. ; 294* ; Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome ; Neurology ; 1991 ; 41(4) ; 491-8
Macaya ; A ; 341* ; Disorders of movement in Leigh syndrome. ; Neuropediatrics ; 1993 ; 24(2) ; 60-7
Mak ; SC ; 2514 ; Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. ; Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal ; 1991 ; 47(1) ; 54-8
Mak ; SC ; 6039 ; Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers. ; Pediatr Neurol ; 1996 ; 15(1) ; 72-5
Maleux ; G ; 6040 ; Quiz case of the month. Subacute necrotizing mitochondrial encephalopathy (Leigh disease). ; Eur Radiol ; 1997 ; 7(9) ; 1505-6
Marin-Garcia ; J ; 3755* ; Cardiac mitochondrial dysfunction in Leigh syndrome. ; Pediatr Cardiol ; 1996 ; 17(6) ; 387-389
Marsac ; C ; 6050 ; Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. ; Hum Genet ; 1997 ; 99(6) ; 785-92
Martin ; E. ; 81* ; Brainstem lesion revealed by MRI in a case of Leigh's disease with respiratory failure ; Pediatr Radiol ; 1990 ; 20 ; 349-50
Maso ; E. ; 30* ; Leigh's syndrome in an adult ; Journal of Neurology ; 1984 ; 231 ; 253-257
Matthews ; PM ; 343* ; Molecular genetic characterization of an X-linked form of Leigh's syndrome. ; Annals of Neurology ; 1993 ; 33(6) ; 652-5
Matthews ; PM ; 500* ; Isolated capillary proliferation in Leigh's syndrome. ; Clinical Neuropathology ; 1994 ; 13(3) ; 139-41
McCully ; KK ; 3786* ; Reduced oxidative muscle metabolism in chronic fatigue syndrome. ; Muscle & Nerve ; 1996 ; 19(5) ; 621-625
McKay ; Nelson ; 94* ; Infantile Subacute Necrotizing Encephalomyelopathy (Leigh's Encephalomyelopathy) ; Textbook of Pediatrics ; 1969 ; ; 1 pg.
McKay ; Nelson ; 95* ; Leigh's Encephalomyelopathy (Pyruvic Acid Carboxylase Defect) ; Textbook of Pediatrics ; 1969 ; ; 1 pg.
Medina ; L. ; 67* ; MR Findings in Patients with Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome): Correlation with Biochemical Defect ; AJNR ; 1990 ; 11 ; 379-384
Melov ; S ; 6075 ; A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase [see comments] ; Nat Genet ; 1998 ; 18(2) ; 159-63
Miranda ; AF ; 457* ; Cytochrome c oxidase deficiency in Leigh's syndrome: Genetic evidence for a nuclear DNA-encoded mutation. ; Neurol ; 1989 ; 39 ; 697-702
Miyabayashi ; S ; 116* ; Biochemical study in 28 children with lactic acidosis in relation to Leigh's encephalomyelopathy ; Eur J Pediatr ; 1985 ; 143 ; 278-83
Mizuguchi ; M ; 6089 ; Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. ; Brain Dev ; 1997 ; 19(2) ; 81-92
Montpetit ; Vital J. A. ; 74* ; Subacute Necrotizing Encephalomyelopathy--A Review and Study of Two Families ; Brain ; 1971 ; 94 ; 1-30
Morris ; AA ; 3819* ; Deficiency of respiratory chain complex I is a common cause of Leigh disease. ; Ann Neurol ; 1996 ; 40(1) ; 25-30
Morris ; SA ; 2460* ; Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease) [see comments]. ; Journal of Paediatrics & Child Health ; 1993 ; 29(5) ; 363-7
Moss ; TH ; 3828 ; Progressive myoclonus epilepsy with focal brainstem degeneration and paternal inheritance. An autopsy report of 4 cases from 2 pedigrees. ; Clin Neuropathol ; 1996 ; 15(2) ; 106-112
Muir ; P ; 3836* ; Enterovirus infection of the central nervous system of humans: lack of association with chronic neurological disease. ; J Gen Virol ; 1996 ; 77( Pt 7) ; 1469-1476
Munaro ; M ; 6107 ; A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. ; Hum Mol Genet ; 1997 ; 6(2) ; 221-8
Nagai ; Toshiro ; 110* ; Leigh encephalopathy: histologic and biochemical analyses of muscle biopsies. ; Pediatric Neurology ; 1992 ; 8(5) ; 328-32
Naito ; E ; 6113 ; Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. ; J Inherit Metab Dis ; 1997 ; 20(4) ; 539-48
Naito ; E ; 3849 ; Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome ; No To Hattatsu ; 1996 ; 28(6) ; 495-500
Nitinavakarn ; B ; 2423 ; Subacute necrotizing encephalopathy (Leigh's disease) in a child with particular reference to CT finding. ; J Medical Association of Thailand ; 1994 ; 77(12) ; 663-8
Ohama ; Eisaku ; 31* ; Mitochondrial Abormalities in Choroid Plexus of Leigh Disease ; Brain & development ; 1988 ; 10-1 ; 30-35
Oki ; J ; 3895* ; Serial neuroimages of acute necrotizing encephalopathy associated with human herpesvirus 6 infection. ; Brain Dev ; 1995 ; 17(5) ; 356-359
Oliveira ; AS ; 3898 ; Acute necrotizing myopathy and podophyllin toxicity. Report of a fatal case. ; Arq Neuropsiquiatr ; 1996 ; 54(2) ; 288-292
Pastores ; GM ; 461* ; Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). ; American Journal of Medical Genetics ; 1994 ; 50(3) ; 265-71
Pena ; JA ; 3939 ; Leigh's encephalopathy (subacute necrotizing encephalopathy). Documentation of its evolution through neuroimaging ; Invest Clin ; 1996 ; 37(3) ; 183-189
Pincus ; Jonathan H. ; 134* ; Thiamine Triphosphate Levels and Histopathology: Correlation in Leigh Disease ; Arch Neurol ; 1976 ; 33 ; 759-63
Pincus ; Jonathan H. ; 71* ; Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology ; Develop. Med. Child Neurol. ; 1972 ; 14 ; 87-101
Pitkanen ; S ; 3947 ; Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. ; J Clinical Investigation ; 1996 ; 98(2) ; 345-351
Possekel ; S ; 3958 ; Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome. ; Biochim Biophys Acta ; 1996 ; 1316(3) ; 153-159
Rahman ; S ; 2911* ; Leigh syndrome: clinical features and biochemical and DNA abnormalities. ; Ann Neurol ; 1996 ; 39(3) ; 343-351
Reichmann ; H ; 1495 ; Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy. ; Annals of Neurology ; 1992 ; 31(1) ; 107-9
Robinson ; B.H. ; 425* ; Leigh's Disease (Subacute Necrotizing Encephalomyelopathy) ; ; 1994 ; ; 1-4
Robinson ; BH ; 2648* ; Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: Clues to pathogenesis of Leigh disease ; J Pediatrics ; 1987 ; 110 ; 216-22
Sakuta ; R. ; 254* ; Mitochondrial DNA mutation and Leigh's syndrome [letter]. ; Annals of Neurology ; 1992 ; 32(4) ; 597-8
Sanders ; W.B. ; 93* ; Leigh Disease (Subacute Necrotizing Encephalomyelopathy) ; Textbook of Pediatrics ; 1992 ; 14th Ed. ; 1 pg.
Sanders ; W.B. ; 92* ; Thiamine Deficiency & Leigh's ; Textbook of Pediatrics ; 1992 ; 14th Ed. ; 1 pg.
Santorelli ; FM ; 4025 ; Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation. ; Pediatr Res ; 1996 ; 39(5) ; 914-917
Santorelli ; FM ; 352* ; The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. ; Annals of Neurology ; 1993 ; 34(6) ; 827-34
Santorelli ; FM ; 6204 ; Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. ; Ann Neurol ; 1997 ; 42(2) ; 256-60
Santorelli ; FM ; 4026* ; Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. ; Neurology ; 1996 ; 47(5) ; 1320-1323
Santorelli ; FM ; 351* ; A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. ; Neurology ; 1994 ; 44(5) ; 972-4
Savoiardo ; M ; 4035* ; Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive Mark of Leigh disease with COX deficiency ; AJNR Am J Neuroradiol ; 1995 ; 16(8) ; 1746-1747
Schmidbauer ; M. ; 281* ; Subacute diencephalic angioencephalopathy: an entity similar to angiodysgenetic necrotizing encephalopathy and Foix-Alajouanine disease ; Journal of Neurology ; 1992 ; 239(7) ; 379-81
Seller ; A ; 6225 ; Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA. ; J Inherit Metab Dis ; 1997 ; 20(1) ; 102-3
Shenkman ; Z ; 6234 ; Anaesthetic management of a patient with Leigh's syndrome. ; Can J Anaesth ; 1997 ; 44(10) ; 1091-5
Sheu ; KFR ; 466* ; Pyrvate dehydrogenase phosphate (PDHb) phosphatase activity in fibroblasts from Leigh's disease. ; Neurol ; 1984 ; 34 ; 1187-91
Shian ; WJ ; 2465 ; Intramyelin splitting in the spongiform lesions of Leigh syndrome. ; Acta Paediatrica Sinica ; 1993 ; 34(4) ; 308-13
Shoffner ; JM ; 4083* ; Maternal inheritance and the evaluation of oxidative phosphorylation diseases. ; Lancet ; 1996 ; 348(9037) ; 1283-1288
Shoffner ; JM ; 4084 ; Mitochondrial defects in basal ganglia diseases. ; Curr Opin Neurol ; 1995 ; 8(6) ; 474-479
Shoffner ; JM ; 2011* ; Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation. ; Annals of Neurology ; 1995 ; 38(2) ; 163-9
Shoffner ; JM ; 109* ; Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. ; Neurology ; 1992 ; 42(11) ; 2168-74
Spranger ; M ; 4113 ; Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency ; Nervenarzt ; 1995 ; 66(2) ; 144-149
Steffen ; DJ ; 511 ; Multifocal subacute necrotizing encephalomyelopathy in Simmental calves. ; J Vet Diagn Invest ; 1994 ; 6(4) ; 466-72
Sweeney ; MG ; 2448* ; Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy. ; Journal of the Neurological Sciences ; 1994 ; 121(1) ; 57-65
Taccone ; Agostino ; 80* ; Leigh Disease: Value of CT in Presymptomatic Patients and Variability of the Lesions with Time ; Journal of Computer Assisted Tomography ; 1989 ; 13(2) ; 207-10
Takahashi ; S ; 6296 ; De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome [letter] ; Am J Hum Genet ; 1998 ; 62(3) ; 717-9
Takanashi ; J ; 6299 ; Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation. ; J Neurol Sci ; 1997 ; 145(1) ; 83-6
Tatuch ; Y. ; 36* ; Heteroplasmic mtDNA Mutation (T->G) at 8993 Can Cause Leigh Disease When the Percentage of Abnormal mtDNA is High ; American Journal of Human Genetics ; 1992 ; 50(4) ; 852-8
Taylor ; MJ ; 972 ; Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome. ; Pediatric Neurology ; 1992 ; 8(1) ; 25-9
Thyagarajan ; D ; 4176* ; A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. ; Ann Neurol ; 1995 ; 38(3) ; 468-472
Tiranti ; V ; 4179 ; Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. ; Human Molecular Genetics ; 1995 ; 4(11) ; 2017-2023
Tomczak ; R ; 4186 ; Newborn infant with cerebral symptoms. Leigh disease ; Radiologe ; 1996 ; 36(7) ; 591-592
Trounce ; I ; 307* ; Cytoplasmic transfer of the mitochondrial DNA 8993T->G (ATP6) point mutation associated with Leigh's disease into mtDNA-less cells shows co_segregation of ATPsynthase defect. ; ; 1993 ; ;
Trounce ; I ; 1167* ; Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. ; Proc Natl Acad Sci USA ; 1994 ; 91(18) ; 8334-8
Tsao ; CY ; 6330 ; Leigh syndrome, cytochrome C oxidase deficiency and hypsarrhythmia with infantile spasms. ; Clin Electroencephalogr ; 1997 ; 28(4) ; 214-7
Tulinius ; MH ; 2411* ; De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring. ; Human Genetics ; 1995 ; 96(3) ; 290-4
unknown ; ; 427* ; Leigh's ; Dictionary of Medical Syndromes ; 1989 ; ; 527
unknown 10 ; ; 102* ; Leigh's Disease ; Diseases of the Nervous System ; ; ; 1433
unknown 10 ; ; 99* ; Leigh's Encephalomyelopathy (Pyruvic Acid Carboxylase Defect) ; Inborn Errors of Metabolism ; ; ; 438
unknown 10 ; ; 97* ; Pyruvate Carboxylase Deficiency & Leigh's ; Metabolic Disorders ; ; ; 1275-6
unknown 14 ; ; 5663* ; Leigh's ; Dictionary of Medical Syndromes ; 1989 ; ; 527
unknown 9 ; ; 96* ; Leigh's ; ; ; ; 1 pg.
Uziel ; G ; 6337 ; Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. ; J Neurol Neurosurg Psychiatry ; 1997 ; 63(1) ; 16-22
Valanne ; L ; 6338 ; Neuroradiologic findings in children with mitochondrial disorders. ; AJNR Am J Neuroradiol ; 1998 ; 19(2) ; 369-77
Van Coster ; Rudy ; 262* ; Cytochrome c oxidase-associated Leigh syndrome: phenotypic featres and pathogenetic speculations ; J Neurol Sci ; 1991 ; 104(1) ; 97-111
Van Erven ; P.M.M. ; 552 ; Disturbed oxidative metabolism in subacute necrotizing encepahlomyelopathy (Leigh syndrome) ; Neuropediatrics ; 1986 ; 17 ; 28-32
van Erven ; P.M.M. ; 39* ; Leigh Syndrome, A Mitochondrial Encephalo(myo)pathy ; Clin Neurol Neurosurg ; 1987 ; 89-4 ; 217-230
Van Erven ; P.M.M. ; 551 ; Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver ; Acta Neurologica Scandinavica ; 1985 ; 72 ; 36-42
van Erven ; PMM ; 303* ; Familial Leigh's syndrome. Association with a defect in oxidative metabolism probably restricted to brain. ; J Neurol ; 1987 ; 234 ; 215-9
Vazquez-Memije ; ME ; 4218 ; Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome. ; J Inherit Metab Dis ; 1996 ; 19(1) ; 43-50
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