Leigh syndrome: clinical features and biochemical and DNA abnormalities.
about
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiencyMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseHuman mitochondrial complex I in health and diseaseLight and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh diseaseA mitochondrial protein compendium elucidates complex I disease biologyHuman CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseHuman Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachMitochondrial disease in childhood: nuclear encodedDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesA missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyVariant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Respiratory chain complex I deficiencyTransmission and prenatal diagnosis of the T9176C mitochondrial DNA mutationMitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse)Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneMutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyThiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case reportLeigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyLeigh disease with mitochondrial DNA A8344G mutation: case report and brief review.Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutationA Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.The neuroimaging of Leigh syndrome: case series and review of the literature.Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.A multicenter study on Leigh syndrome: disease course and predictors of survival.Leigh-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.A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal featuresLong-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental DeclineMitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice.Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome.Mitochondrial disorders. A diagnostic challenge in clinical chemistry.Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.In silico investigation of potential mTOR inhibitors from traditional Chinese medicine for treatment of Leigh syndromeComplex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome.Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.
P2860
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P2860
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年学术文章
@wuu
1996年学术文章
@zh-cn
1996年学术文章
@zh-hans
1996年学术文章
@zh-my
1996年学术文章
@zh-sg
1996年學術文章
@yue
1996年學術文章
@zh
1996年學術文章
@zh-hant
name
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@en
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@nl
type
label
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@en
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@nl
prefLabel
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@en
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
@nl
P2093
P2860
P356
P1433
P1476
Leigh syndrome: clinical features and biochemical and DNA abnormalities
@en
P2093
P2860
P304
P356
10.1002/ANA.410390311
P577
1996-03-01T00:00:00Z