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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

http://www.wikidata.org/entity/Q49107059

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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 encephalopathy NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease Human mitochondrial complex I in health and disease Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease A mitochondrial protein compendium elucidates complex I disease biology Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach Mitochondrial disease in childhood: nuclear encoded Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 Respiratory chain complex I deficiency Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation Mitochondrial 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) gene Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy Thiamine 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 report Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency Leigh 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 mutation A 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 features Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline Mitochondrial 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 syndrome Complex 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.

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P2860

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

http://www.wikidata.org/entity/Q49107059

description

1996 nî lūn-bûn

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1996年の論文

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年学术文章

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1996年學術文章

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1996年學術文章

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1996年學術文章

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name

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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type

label

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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prefLabel

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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Annals of Neurology

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Leigh syndrome: clinical features and biochemical and DNA abnormalities

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Blok RB

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Chow CW

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P2860

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.

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343-351

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10.1002/ANA.410390311

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3

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39

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John Christodoulou

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