The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
about
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial diseaseCABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizuresHeart mitochondrial proteome study elucidates changes in cardiac energy metabolism and antioxidant PRDX3 in human dilated cardiomyopathyBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Coenzyme Q10 and Neurological Diseases.Hypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal diseaseThe in-depth evaluation of suspected mitochondrial diseaseCoQ10 Deficiency May Indicate Mitochondrial Dysfunction in Cr(VI) Toxicity.Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTTreatment of mitochondrial disorders.Clinical presentations of coenzyme q10 deficiency syndromePathomechanisms in coenzyme q10-deficient human fibroblasts.Coenzyme q10 therapyCyclic vomiting syndrome masking a fatal metabolic disease.Nutraceuticals and headache: the biological basis.Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.State of the art in muscle lipid diseases.176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiencyRedox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.Spectrum of combined respiratory chain defects.CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.Diagnosis and treatment of mitochondrial myopathiesA Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficienciesHeterogeneity of coenzyme Q10 deficiency: patient study and literature review.Molecular diagnostics and mitochondrial dysfunction: a future perspective.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.How can we treat mitochondrial encephalomyopathies? Approaches to therapyGenomics and genetics in the biology of adaptation to exercise.Genetic pathogenesis of Perrault Syndrome.Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.Cellular factories for coenzyme Q10 production.Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.Coenzyme Q10 deficiencies in neuromuscular diseases.Therapeutic use of coenzyme Q10 and coenzyme Q10-related compounds and formulations.
P2860
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P2860
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@ast
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en-gb
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@nl
type
label
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@ast
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en-gb
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@nl
prefLabel
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@ast
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en-gb
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@nl
P2093
P2860
P50
P921
P356
P1433
P1476
The myopathic form of coenzyme ...... ein dehydrogenase (ETFDH) gene
@en
P2093
Aysegul Tokatli
Beatrix Pálmafy
Benedikt G H Schoser
Beril Talim
Catarina Quinzii
Gulsev Kale
Klaus Gempel
Michio Hirano
Peter Schneiderat
P2860
P304
P356
10.1093/BRAIN/AWM054
P407
P577
2007-08-01T00:00:00Z