about
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsDefects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complexMitochondrial encephalomyopathy: variable clinical expression within a single kindred.A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Human mitochondrial complex I in health and diseaseLight and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseAlaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sistersMitochondrial disease in childhood: nuclear encodedMitochondrial DNA disease-molecular insights and potential routes to a cureLoss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in miceShy1 couples Cox1 translational regulation to cytochrome c oxidase assembly.Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesMutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencyA guide to diagnosis and treatment of Leigh syndrome.Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.The neuroimaging of Leigh syndrome: case series and review of the literature.The many faces of paediatric mitochondrial disease on neuroimaging.A multicenter study on Leigh syndrome: disease course and predictors of survival.Adult form of Leigh's disease: a clinico pathological case with CT scan examination.Familial dystonia and visual failure with striatal CT lucenciesLeigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.Thiamine metabolism in disease.Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings.The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.A rare mitochondrial disorder: Leigh syndrome--a case report.An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1αA new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.The genetics of Leigh syndrome and its implications for clinical practice and risk managementPost-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.Neuroimaging of mitochondrial disease.Mitochondrial DNA: impacting central and peripheral nervous systems.Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh SyndromeA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.Mitochondrial DNA mutations in disease and agingErythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy
P2860
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P2860
description
1951 nî lūn-bûn
@nan
1951 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1951 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1951年の論文
@ja
1951年論文
@yue
1951年論文
@zh-hant
1951年論文
@zh-hk
1951年論文
@zh-mo
1951年論文
@zh-tw
1951年论文
@wuu
name
Subacute necrotizing encephalomyelopathy in an infant
@ast
Subacute necrotizing encephalomyelopathy in an infant
@en
Subacute necrotizing encephalomyelopathy in an infant
@nl
type
label
Subacute necrotizing encephalomyelopathy in an infant
@ast
Subacute necrotizing encephalomyelopathy in an infant
@en
Subacute necrotizing encephalomyelopathy in an infant
@nl
prefLabel
Subacute necrotizing encephalomyelopathy in an infant
@ast
Subacute necrotizing encephalomyelopathy in an infant
@en
Subacute necrotizing encephalomyelopathy in an infant
@nl
P3181
P356
P1476
Subacute necrotizing encephalomyelopathy in an infant
@en
P2093
P304
P3181
P356
10.1136/JNNP.14.3.216
P407
P577
1951-08-01T00:00:00Z