| scholarly article | Q13442814 |
| P2093 | author name string | D LEIGH | |
| P2860 | cites work | THE WERNICKE SYNDROME: With Special Reference to Manic Syndromes Associated with Hypothalamic Lesions | Q42701891 |
| Acute necrotizing hemorrhagic encephalopathy | Q80278588 | ||
| The effect of certain quinoline compounds upon the nervous system of monkeys | Q80317622 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | encephalomyelopathy | Q69615040 |
| P304 | page(s) | 216-21 | |
| P577 | publication date | 1951-08-01 | |
| P1433 | published in | Journal of Neurology, Neurosurgery and Psychiatry | Q1599804 |
| P1476 | title | Subacute necrotizing encephalomyelopathy in an infant | |
| P478 | volume | 14 |
| Q64102394 | A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene |
| Q35575222 | A defect in pyruvate decarboxylase in a child with an intermittent movement disorder |
| Q34537675 | A disease in infants resembling chronic Wernicke's encephalopathy |
| Q37592286 | A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome |
| Q30649372 | A guide to diagnosis and treatment of Leigh syndrome. |
| Q43855066 | A hemizygous GYG2 mutation and Leigh syndrome: a possible link? |
| Q89447850 | A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations |
| Q24536088 | A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy |
| Q33614160 | A multicenter study on Leigh syndrome: disease course and predictors of survival |
| Q34295052 | A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. |
| Q57588426 | A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency |
| Q46667511 | A novel mtDNA C11777A mutation in Leigh syndrome |
| Q45817648 | A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family |
| Q48598189 | A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency |
| Q37434032 | A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome |
| Q34173673 | A rare mitochondrial disorder: Leigh syndrome--a case report. |
| Q38098184 | A review on the role of quinones in renal disorders |
| Q28213285 | A role for mitochondrial enzymes in inherited neoplasia and beyond |
| Q35009121 | A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency |
| Q84946291 | ANNOTATIONS |
| Q40579519 | Acute ascending poliomyelomalacia after treatment of acute lymphocytic leukemia |
| Q33620470 | Adult form of Leigh's disease: a clinico pathological case with CT scan examination |
| Q24669686 | Alaninuria, Associated with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus in Two Sisters |
| Q51110129 | An Autopsy Case of Brain Stem Encephalitis with Spinal Cord Involvement |
| Q34176831 | An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α |
| Q56883881 | An evaluation of the role of mitochondria in neurodegenerative diseases: mitochondrial mutations and oxidative pathology, protective nuclear responses, and cell death in neurodegeneration |
| Q38172821 | Anaesthetic management of a patient with Leigh's syndrome with central hypoventilation and obstructive sleep apnoea |
| Q48604120 | Anaesthetic management of a patient with Leigh’s syndrome |
| Q48166208 | Anesthesia for Corrective Spinal Surgery in a Patient with Leigh???s Disease |
| Q55313283 | Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome. |
| Q48015546 | Anesthetic Management of a Pediatric Patient with Leigh Syndrome |
| Q38023400 | Anesthetic considerations in Leigh disease: Case report and literature review |
| Q48921412 | Antemortem diagnosis of Leigh's disease: role of magnetic resonance studies |
| Q83637629 | Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation |
| Q39765391 | Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene |
| Q33782079 | Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome |
| Q37317336 | Biochemical and genetic analysis of Leigh syndrome patients in Korea |
| Q73614076 | Biochemical and molecular analysis of an X‐linked case of Leigh syndrome associated with thiamin‐responsive pyruvate dehydrogenase deficiency |
| Q48747962 | Biochemical studies and therapy in subacute necrotizing encephalomyelopathy (Leigh's syndrome) |
| Q30813761 | Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations. |
| Q42455963 | Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study |
| Q48222346 | CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy) |
| Q37917716 | Cardiological manifestations of mitochondrial respiratory chain disorders |
| Q48574535 | Cardiomyopathy associated with Leigh's disease |
| Q91982160 | Cardiovascular Manifestations of Mitochondrial Disease |
| Q38078887 | Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. |
| Q48628847 | Characteristic changes on brain CT in a case of leigh encephalopathy with deficiency of pyruvate dehydrogenase |
| Q50515893 | Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions |
| Q83648544 | Characterization of heme‐binding properties of Paracoccus denitrificans Surf1 proteins |
| Q72852056 | Chronic leigh disease: A genetic and biochemical study |
| Q94464320 | Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome |
| Q42943878 | Clinical Manifestations in Children With Mitochondrial Diseases |
| Q73434379 | Clinical and molecular studies in three Portuguese mtDNA T8993G families |
| Q38827475 | Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients |
| Q59791101 | Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations |
| Q55442253 | Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. |
| Q71376773 | Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation |
| Q43462531 | Combined hepatic and cerebral degeneration in infancy |
| Q48198748 | Comparative appraisal of CT scan and MRI in the diagnosis of Leigh encephalomyelopathy in two siblings |
| Q71943526 | Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome |
| Q47329084 | Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome |
| Q43629987 | Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome |
| Q33934412 | Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome |
| Q43862163 | Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates. |
| Q42450482 | Congenital Leigh's disease: Panencephalomyelopathy and peripheral neuropathy |
| Q36114824 | Congenital brain malformations in mitochondrial disease |
| Q40128767 | Congenital lactic acidosis due to pyruvate carboxylase deficiency: Absence of an inhibitor of TPP-ATP phosphoryl transferase |
| Q48700715 | Cytochrome C oxidase deficiency in two siblings with leigh encephalomyelopathy |
| Q48601404 | Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathy |
| Q36255720 | Cytochrome c Oxidase Biogenesis and Metallochaperone Interactions: Steps in the Assembly Pathway of a Bacterial Complex |
| Q35038648 | Cytochrome c oxidase deficiency |
| Q42508840 | Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome |
| Q34594190 | Cytochrome oxidase in health and disease. |
| Q39710779 | Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease) |
| Q47853362 | Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome. |
| Q24307554 | Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex |
| Q37901947 | Defects of the respiratory chain. |
| Q34566415 | Diagnosis and treatment of childhood mitochondrial diseases |
| Q68511225 | Diagnostic clues in an adult case of Leigh's disease |
| Q48125312 | Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome |
| Q39504293 | Disorders of the pyruvate dehydrogenase complex |
| Q33948563 | Disorders related to mitochondrial membranes: pathology of the respiratory chain and neurodegeneration |
| Q42913202 | Distinct retinal deficits in a zebrafish pyruvate dehydrogenase-deficient mutant. |
| Q37139826 | Drosophila melanogaster as a model organism of brain diseases |
| Q28069775 | Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases |
| Q38940737 | ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome |
| Q34643074 | EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. |
| Q47074213 | Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model |
| Q46188637 | Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant |
| Q48201984 | Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study. |
| Q71829821 | Encephalomyelopathy of Leigh |
| Q35114395 | Erythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy |
| Q51434218 | Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene |
| Q48890637 | Experience with Phosphoryl Transferase Inhibition in Subacute Necrotizing Encephalomyelopathy |
| Q76991131 | FAMILIAL INFANTILE ENCEPHALOPATHY WITH SYMMETRIC BILATERAL NECROSIS OF THE CORPUS STRIATUM |
| Q33622206 | Familial dystonia and visual failure with striatal CT lucencies |
| Q48347638 | Familial lethal sleep apnea |
| Q40284347 | Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome) |
| Q36070987 | Fatal breathing dysfunction in a mouse model of Leigh syndrome |
| Q63681442 | Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver |
| Q57588450 | Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene |
| Q64082674 | G-quadruplex dynamics contribute to regulation of mitochondrial gene expression |
| Q47622391 | G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome |
| Q87268598 | Genetic and biochemical findings in Chinese children with Leigh syndrome |
| Q69728499 | Genetic disorders of mitochondrial function |
| Q36686802 | Genotype-phenotype correlation of maternally inherited disorders due to mutations in mitochondrial DNA. |
| Q47668492 | Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. |
| Q34650435 | Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies |
| Q73764603 | Heterogeneous presentation in Leigh syndrome |
| Q24540036 | Human mitochondrial complex I in health and disease |
| Q52112327 | Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid |
| Q34315922 | Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations |
| Q39897674 | Hypoglycemia in infancy and childhood. II. |
| Q40356491 | Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. |
| Q41922590 | Imaging the metabolic footprint of Glut1 deficiency on the brain |
| Q48053245 | Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome). |
| Q37136626 | Impairment of pyridoxal phosphate dependent metabolic reactions in a child with subacute necrotizing encephalopathy |
| Q51286376 | Infantile Chronic Necrotizing Encephalopathy1 |
| Q48194241 | Infantile encephalopathy associated with the MELAS A3243G mutation |
| Q51210589 | Infantile subacute necrotizing encephalomyelopathy. Report of a case |
| Q48266910 | Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system |
| Q48935082 | Kinetics of thiamine transport across the blood-brain barrier in the rat. |
| Q71853077 | Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency |
| Q36060849 | Lactic acidosis with necrotizing encephalopathy in two sibs |
| Q44934894 | Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers |
| Q43757469 | Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. |
| Q36789533 | Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome |
| Q73818836 | Leigh Syndrome, Cytochrome C Oxidase Deficiency and Hypsarrhythmia with Infantile Spasms |
| Q48308173 | Leigh disease due to SCO2 mutations revealed at extended autopsy. |
| Q43142772 | Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. |
| Q42508837 | Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiency |
| Q37696444 | Leigh map: A novel computational diagnostic resource for mitochondrial disease |
| Q39498152 | Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2 |
| Q53214106 | Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine |
| Q34544668 | Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan |
| Q60050001 | Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in |
| Q38962266 | Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing |
| Q49021635 | Leigh syndrome in an infant resulting from mitochondrial DNA depletion |
| Q36447731 | Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature |
| Q53579107 | Leigh syndrome: Historical perspective and clinical variations |
| Q38617364 | Leigh syndrome: One disorder, more than 75 monogenic causes |
| Q31034830 | Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options |
| Q38482925 | Leigh syndrome: neuropathology and pathogenesis. |
| Q48475711 | Leigh syndrome: the genetic heterogeneity story continues |
| Q41480498 | Leigh's Disease: The Acute Clinical Course of a Two-Year-Old Child with Subacute Necrotizing Encephalomyelopathy |
| Q48905767 | Leigh's Subacute Necrotizing Encephalomyelo‐pathy in a Child with Infantile Spasms and Hypsarrhythmia |
| Q41910304 | Leigh's encephalomyelopathy: an inborn error of gluconeogenesis |
| Q68039243 | Leigh's subacute necrotizing encephalomyelopathy: possible diagnosis by C.T. scan |
| Q38537359 | Leigh's subacute necrotizing encephalomyelopathy: possible diagnosis by CT scan. |
| Q36061569 | Leigh's subacute necrotizing encephalopathy: clinical and biochemical study, with special reference to therapy with lipoate |
| Q45169012 | Leigh's syndrome |
| Q33627507 | Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD). |
| Q48495900 | Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy |
| Q51535245 | Lesional perfusion abnormalities in Leigh disease demonstrated by arterial spin labeling correlate with disease activity |
| Q57059412 | Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report |
| Q39382567 | Letter: Biochemical abnormalities in Leigh's disease |
| Q39382561 | Letter: Leigh's disease: A family study |
| Q39382553 | Letter: Variant forms of phenylketonuria |
| Q34150287 | Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings. |
| Q24648969 | Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease |
| Q33671457 | Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature |
| Q38806341 | Loss of LRPPRC causes ATP synthase deficiency |
| Q50962184 | Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion |
| Q47882889 | Loss of mtDNA activates astrocytes and leads to spongiotic encephalopathy |
| Q27312752 | Loss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in mice |
| Q52728786 | MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load |
| Q44122031 | Manipulation of mitochondrial DNA gene expression in the mouse |
| Q42458254 | Maternally inherited Leigh syndrome: an unusual cause of infantile apnea |
| Q48173103 | Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease |
| Q44646954 | Medicine. A common pathway for a rare disease? |
| Q55235450 | Metabolic etiologies in West syndrome. |
| Q39563211 | Mimicking a SURF1 allele reveals uncoupling of cytochrome c oxidase assembly from translational regulation in yeast |
| Q33587719 | Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees |
| Q27005350 | Mitochondrial DNA disease-molecular insights and potential routes to a cure |
| Q35018267 | Mitochondrial DNA mutations in disease and aging |
| Q34737643 | Mitochondrial DNA: impacting central and peripheral nervous systems |
| Q48216498 | Mitochondrial Depletion Causes Neonatal-Onset Leigh Syndrome, Myopathy, and Renal Tubulopathy |
| Q26820866 | Mitochondrial Disease in Childhood: Nuclear Encoded |
| Q36762842 | Mitochondrial Disease in Childhood: mtDNA Encoded |
| Q58573031 | Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies |
| Q36444101 | Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes |
| Q36534792 | Mitochondrial complex I: structure, function and pathology |
| Q36707793 | Mitochondrial disease--its impact, etiology, and pathology. |
| Q95554206 | Mitochondrial diseases |
| Q70244859 | Mitochondrial encephalomyopathies |
| Q41146469 | Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes |
| Q42198273 | Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibship |
| Q52076109 | Mitochondrial encephalomyopathy. A variant with heart failure and liver steatosis |
| Q24514945 | Mitochondrial encephalomyopathy: variable clinical expression within a single kindred |
| Q36084462 | Mitochondrial gene therapy improves respiration, biogenesis, and transcription in G11778A Leber's hereditary optic neuropathy and T8993G Leigh's syndrome cells. |
| Q37994020 | Mitochondrial translational inhibitors in the pharmacopeia |
| Q93036130 | Molecular basis of Leigh syndrome: a current look |
| Q37682674 | Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. |
| Q37404541 | Multisystem manifestations of mitochondrial disorders |
| Q82365105 | Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system |
| Q35846393 | Mutations in cytochrome c oxidase subunit VIa cause neurodegeneration and motor dysfunction in Drosophila |
| Q34594206 | Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene |
| Q28214123 | Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency |
| Q36203487 | Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. |
| Q72172830 | Natural history of the spongy state. Its significance in optic cytopathology |
| Q42587157 | Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease |
| Q48905750 | Necrotizing Encephalomyelopathy (Leigh) |
| Q36062745 | Necrotizing Encephalomyelopathy of Leigh: Neuropathological Findings in 8 Cases |
| Q51222340 | Necrotizing Encephalopathy Localized to the Brain Stem in an Infant |
| Q36762857 | Neuroimaging in mitochondrial disorders |
| Q34593678 | Neuroimaging of mitochondrial disease. |
| Q38067903 | Neurologic Disorders Due to Mitochondrial DNA Mutations |
| Q52171605 | Neurologic presentations of mitochondrial disorders |
| Q72108740 | Neuronal degeneration in subacute necrotizing encephalomyelopathy (Leigh's disease) |
| Q35707204 | Neuropathological aspects of mitochondrial DNA disease |
| Q34458266 | Neuropathological features of mitochondrial disorders |
| Q48152885 | Neuropathology of myoclonus epilepsy associated with ragged-red fibers (Fukuhara's disease). |
| Q43560233 | New splicing-site mutations in the SURF1 gene in Leigh syndrome patients |
| Q43118944 | Non-Trigger Anesthesia Management in a Patient With Leigh's Syndrome Presenting for Dental Rehabilitation |
| Q50222836 | Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). |
| Q36533623 | OXPHOS mutations and neurodegeneration |
| Q48729977 | Ocular Manifestations of Subacute Necrotizing Encephalomyelopathy (Leigh's Disease) |
| Q72180845 | On the significance of vascular involvement and glial dystrophy in Leigh's necrosing encephalomyelopathy. Study of 2 families and 3 anatomic cases |
| Q53172823 | Ophthalmological characteristics in children with Leigh syndrome - A long-term follow-up |
| Q48257442 | Ophthalmological manifestations in patients with Leigh syndrome |
| Q36855578 | Outpatient anesthesia for oral surgery in a juvenile with Leigh disease |
| Q48745620 | Pathogenesis of Leigh's encephalomyelopathy |
| Q41934458 | Phenotypic and genotypic variability in Alpers syndrome |
| Q34587197 | Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. |
| Q49118213 | Proton MR Spectroscopy in Patients with Leigh Syndrome. |
| Q48183962 | Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome |
| Q41677032 | Rapidly Fatal Subacute Necrotizing Encephalomyelopathy (Leigh's Syndrome) in a Five-Year-Old Boy |
| Q41461072 | Reactive oxygen species act remotely to cause synapse loss in a Drosophila model of developmental mitochondrial encephalopathy |
| Q53818543 | Reappraisal of regional thiamine content in the central nervous system of the normal and thiamine-deficient mice |
| Q35908395 | Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain |
| Q41895323 | Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development |
| Q93213754 | Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease |
| Q41281361 | Report of a Patient with Severe, Chronic Lactic Acidaemia and Pyruvate Carboxylase Deficiency |
| Q38861730 | Review: Central nervous system involvement in mitochondrial disease |
| Q24296457 | SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors |
| Q41005806 | SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome |
| Q52431176 | SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype |
| Q22008476 | SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome |
| Q83843481 | SURF1-associated Leigh syndrome: a case series and novel mutations |
| Q38072715 | Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study |
| Q27933832 | Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly |
| Q39646401 | Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome |
| Q49116465 | Spongiform subacute necrotising encephalomyelopahty |
| Q51154572 | Spongy Degeneration of the Central Nervous System in Infancy |
| Q40205810 | Studies on ATP: thiamine diphosphate phosphotransferase activity in rat brain |
| Q44606575 | Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology |
| Q68677855 | Subacute necrotizing encephalomyelopathy (Leigh disease): CT and MRI appearances |
| Q48540358 | Subacute necrotizing encephalomyelopathy (Leigh disease): report of a case with Lennox-Gastaut syndrome |
| Q41216278 | Subacute necrotizing encephalomyelopathy of infancy and childhood |
| Q37071714 | Subacute necrotizing encephalomyelopathy: Its relationship to central pontine myelinolysis |
| Q39437316 | Subacute necrotizing encephalopathy in an acidotic child |
| Q69848481 | Subdural Effusions in Infants |
| Q37377668 | Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis |
| Q61803767 | Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases |
| Q35622053 | The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. |
| Q41117317 | The blood-brain barrier and selective vulnerability in experimental thiamine-deficiency encephalopathy in the mouse. |
| Q34171965 | The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. |
| Q34458255 | The expanding spectrum of nuclear gene mutations in mitochondrial disorders |
| Q22008460 | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome |
| Q34237999 | The genetics and pathology of oxidative phosphorylation |
| Q34532004 | The genetics of Leigh syndrome and its implications for clinical practice and risk management |
| Q31116989 | The many faces of paediatric mitochondrial disease on neuroimaging |
| Q37483489 | The mitochondrial brain: From mitochondrial genome to neurodegeneration |
| Q31035593 | The neuroimaging of Leigh syndrome: case series and review of the literature. |
| Q37785511 | The neurologic manifestations of mitochondrial disease |
| Q35172406 | The neurology of mitochondrial DNA disease. |
| Q36853449 | The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome |
| Q33684841 | The use of neuroimaging in the diagnosis of mitochondrial disease. |
| Q64041335 | The utility of phenomics in diagnosis of inherited metabolic disorders |
| Q38566683 | Therapeutic applications of the TAT-mediated protein transduction system for complex I deficiency and other mitochondrial diseases |
| Q33990080 | Thiamine Metabolism in Disease |
| Q38192970 | Thiamine triphosphate: a ubiquitous molecule in search of a physiological role |
| Q34764056 | Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome |
| Q72149267 | Topography of Wernicke's encephalopathy in children and adults |
| Q59665358 | USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis |
| Q52175132 | Uncommon morphologic characteristics in Leigh's disease. |
| Q61448737 | Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in |
| Q50752065 | Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations |
| Q38067902 | Update on Nuclear Mitochondrial Genes and Neurologic Disorders |
| Q35445773 | Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome |
| Q77338766 | Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease |
| Q76847172 | WERNICKE'S SYNDROME IN CHILDHOOD WITHOUT SIGNS OF NUTRITIONAL DEFICIENCY |
| Q30981330 | White matter involvement in mitochondrial diseases |
| Q38752156 | Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation. |
| Q40274723 | X-linked Leigh's syndrome |
| Q79918878 | [Diagnostic investigations of mitochondrial diseases with neurological symptoms] |
| Q69807127 | [Familial progressive leukoencephalopathy with vascular proliferation. Its eventual relation to subacute necrotizing encephalopathy] |
| Q71641367 | [Juvenile type of subacute necrotizing encephalomyelinopathy (Leigh) with unusual CNS-localisation] |
| Q79293128 | [The morphological Wernicke complex in early childhood (familial disease in 7-month-old twins)] |
| Q90264236 | mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders |
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