Pages that link to "Q46729029"

The following pages link to Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. (Q46729029):

Displaying 35 items.

• mitochondrial complex I deficiency (Q23542367) (← links)
• TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex (Q24314040) (← links)
• Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease (Q24336408) (← links)
• Mitochondrial genetics (Q26849285) (← links)
• NDUFA2 complex I mutation leads to Leigh disease (Q28282142) (← links)
• Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans (Q28481587) (← links)
• EFNS guidelines on the molecular diagnosis of mitochondrial disorders (Q33516950) (← links)
• Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome (Q34064462) (← links)
• The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families (Q34163172) (← links)
• Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews (Q34327036) (← links)
• Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. (Q36203487) (← links)
• Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders (Q37220086) (← links)
• Assembly factors for the membrane arm of human complex I. (Q37340668) (← links)
• Pathogenic mutations of nuclear genes associated with mitochondrial disorders (Q37412986) (← links)
• Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. (Q37428322) (← links)
• The genetics and pathology of mitochondrial disease. (Q37560946) (← links)
• Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level. (Q37785516) (← links)
• Mitochondrial complex I deficiency of nuclear origin I. Structural genes (Q37964862) (← links)
• Accessory subunits of mitochondrial complex I. (Q38141073) (← links)
• Exome sequencing a review of new strategies for rare genomic disease research (Q38559636) (← links)
• Regulation of Mitochondrial Complex I Biogenesis in Drosophila Flight Muscles (Q38690884) (← links)
• The antioxidant Trolox restores mitochondrial membrane potential and Ca2 -stimulated ATP production in human complex I deficiency (Q39545676) (← links)
• Functional asymmetry and electron flow in the bovine respirasome (Q41600120) (← links)
• The architecture of the mammalian respirasome (Q41600660) (← links)
• Screening of biochemical and molecular mechanisms of secondary injury and repair in the brain after experimental blast-induced traumatic brain injury in rats (Q41626438) (← links)
• NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease (Q42006548) (← links)
• Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects (Q46149031) (← links)
• An adverse outcome pathway for parkinsonian motor deficits associated with mitochondrial complex I inhibition. (Q48171351) (← links)
• Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene (Q57987777) (← links)
• Elucidating the contribution of ETC complexes I and II to the respirasome formation in cardiac mitochondria (Q60045990) (← links)
• Mitochondrial Metabolism in Major Neurological Diseases (Q60949053) (← links)
• Genetics and the heart rate response to exercise. (Q64906243) (← links)
• Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency (Q89435314) (← links)
• XPRESSyourself: Enhancing, standardizing, and automating ribosome profiling computational analyses yields improved insight into data (Q89467094) (← links)
• Cytosolic translational responses differ under conditions of severe short-term and long-term mitochondrial stress (Q92215794) (← links)