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Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndromeMitochondrial disease in childhood: nuclear encodedThe LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenaseAlleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegenerationA Drosophila model of mitochondrial disease caused by a complex I mutation that uncouples proton pumping from electron transfer.A guide to diagnosis and treatment of Leigh syndrome.The neuroimaging of Leigh syndrome: case series and review of the literature.Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome.Why does Leigh syndrome respond to immunotherapy?Succinate dehydrogenase - Assembly, regulation and role in human disease.Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.The genetics of Leigh syndrome and its implications for clinical practice and risk managementGenome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathySynaptic mitochondria in synaptic transmission and organization of vesicle pools in health and disease.Polioencephalomyelopathy in a mixed breed dog resembling Leigh's disease.The redox basis of epigenetic modifications: from mechanisms to functional consequences.1,3-Dinitrobenzene-induced metabolic impairment through selective inactivation of the pyruvate dehydrogenase complex.A mutation in the NADH-dehydrogenase subunit 2 suppresses fibroblast aging.Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.A Mutation in Caenorhabditis elegans NDUF-7 Activates the Mitochondrial Stress Response and Prolongs Lifespan via ROS and CED-4Fatal breathing dysfunction in a mouse model of Leigh syndromeA Proteomic Investigation of Hepatic Resistance to Ascaris in a Murine ModelNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh SyndromeSuccination is Increased on Select Proteins in the Brainstem of the NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) Knockout Mouse, a Model of Leigh Syndrome.An interesting case of Leigh-like syndrome.Adult-onset Leigh's disease: A rare entityGenetic counseling in mitochondrial disease.Mitochondrial disease in childhood: mtDNA encoded.Review of clinical trials for mitochondrial disorders: 1997-2012.Leigh Syndrome in Childhood: Neurologic Progression and Functional OutcomeThe genetics of dystonias.Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient backgroundResponse to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation.Metabolic reprogramming during neuronal differentiation from aerobic glycolysis to neuronal oxidative phosphorylationMalingering and Factitious Disorder (Münchausen-syndrome) can be MitochondrialA rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeCentral Hypoventilation Syndromes.Pharmacokinetic evaluation of idebenone.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Leigh and Leigh-like syndrome in children and adults.
@en
Leigh and Leigh-like syndrome in children and adults.
@nl
type
label
Leigh and Leigh-like syndrome in children and adults.
@en
Leigh and Leigh-like syndrome in children and adults.
@nl
prefLabel
Leigh and Leigh-like syndrome in children and adults.
@en
Leigh and Leigh-like syndrome in children and adults.
@nl
P1433
P1476
Leigh and Leigh-like syndrome in children and adults.
@en
P2093
Josef Finsterer
P304
P356
10.1016/J.PEDIATRNEUROL.2008.07.013
P577
2008-10-01T00:00:00Z