Pages that link to "Q36316862"

The following pages link to Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families (Q36316862):

Displaying 48 items.

• Respiratory chain complex I deficiency (Q28189572) (← links)
• Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry (Q28393214) (← links)
• Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration (Q28834138) (← links)
• Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation (Q30853128) (← links)
• Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype (Q33540911) (← links)
• Heterogeneous patterns of tissue injury in NARP syndrome (Q33720822) (← links)
• Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans (Q33772977) (← links)
• Does the patient have a mitochondrial encephalomyopathy? (Q33792208) (← links)
• De novo mtDNA point mutations are common and have a low recurrence risk. (Q33886230) (← links)
• Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. (Q34260163) (← links)
• Human mitochondrial DNA diseases (Q34264417) (← links)
• Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993 (Q34390017) (← links)
• The genetics of pulmonary arterial hypertension in the post-BMPR2 era. (Q35573919) (← links)
• Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome (Q36019509) (← links)
• Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck (Q36581411) (← links)
• Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer? (Q36607471) (← links)
• The distribution of mitochondrial DNA heteroplasmy due to random genetic drift (Q37156189) (← links)
• Mitochondrial dysfunction in neurodegenerative diseases. (Q37322156) (← links)
• NARP Syndrome: A 20-Year Follow-Up. (Q37573636) (← links)
• Mitochondrial ataxias. (Q37615265) (← links)
• Peripheral neuropathy in mitochondrial disorders (Q38139602) (← links)
• Loss of LRPPRC causes ATP synthase deficiency (Q38806341) (← links)
• Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. (Q39080558) (← links)
• Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation (Q40911095) (← links)
• Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells (Q42010130) (← links)
• Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. (Q42533734) (← links)
• Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism (Q43200104) (← links)
• Genetic epidemiology of Parkinson's disease (Q44195128) (← links)
• Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy (Q48107633) (← links)
• Neuropathologic and clinical features in eight Chinese patients with Leigh disease (Q48513390) (← links)
• Posterior leukoencephalopathy in NARP syndrome (Q48515373) (← links)
• Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load (Q48612981) (← links)
• Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association (Q48715123) (← links)
• Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism (Q49632281) (← links)
• Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). (Q50222836) (← links)
• Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. (Q53378602) (← links)
• ATP Synthase Diseases of Mitochondrial Genetic Origin. (Q55355374) (← links)
• Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a (Q57010910) (← links)
• Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (Q57588450) (← links)
• Mitochondrial Genomics: A complex field now coming of age (Q58573044) (← links)
• A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus (Q61606229) (← links)
• Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study (Q68791999) (← links)
• Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase (Q78193904) (← links)
• Mitochondrial disorders and ataxia (Q79341034) (← links)
• Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis (Q85748009) (← links)
• Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome (Q88228638) (← links)
• Cerebral imaging in paediatric mitochondrial disorders (Q89442066) (← links)
• MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases (Q91579924) (← links)