294 results on '"Turnbull, Douglass M."'
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2. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
3. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
4. Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease
5. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease
6. Mitochondrial DNA Mutations Are Established in Human Colonic Stem Cells, and Mutated Clones Expand by Crypt Fission
7. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
8. A neurological perspective on mitochondrial disease
9. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
10. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
11. Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death
12. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
13. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
14. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
15. Human stem cell aging: do mitochondrial DNA mutations have a causal role?
16. Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?
17. Experimental Strategies Towards Treating Mitochondrial DNA Disorders
18. Investigation of the mitochondrial genome in patients with atypical motor neuron disease
19. Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?
20. Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree
21. Mutant POLG2 disrupts DNA polymerase gama subunits and causes progressive external opthalmoplegia
22. Neuropathological Aspects of Mitochondrial DNA Disease
23. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
24. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†
25. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease
26. Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNAGlu (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study
27. Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation
28. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management
29. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
30. Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
31. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
32. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups
33. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells
34. Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons
35. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration
36. Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity
37. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations
38. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
39. PHENOTYPIC DIVERSITY ASSOCIATED WITH THE MITOCHONDRIAL M.8313G>A POINT MUTATION
40. Mitochondrial changes within axons in multiple sclerosis
41. A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features
42. Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations
43. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation
44. Mitochondrial DNA and survival after sepsis: a prospective study
45. Mitochondrial involvement in the ageing process. Facts and controversies
46. Treatment of Mitochondrial Disease
47. Resistance training in patients with single, large-scale deletions of mitochondrial DNA
48. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
49. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation
50. Relative Rates of Evolution in the Coding and Control Regions of African mtDNAs
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