60 results on '"Turnbull, Douglass M."'
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2. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
3. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
4. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28
5. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
6. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
7. Human stem cell aging: do mitochondrial DNA mutations have a causal role?
8. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
9. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†
10. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease
11. 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
12. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia
13. Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation
14. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management
15. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
16. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells
17. Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons
18. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration
19. Mitochondrial Transfer RNAPhe Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia-Rigidity
20. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
21. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations
22. PHENOTYPIC DIVERSITY ASSOCIATED WITH THE MITOCHONDRIAL M.8313G>A POINT MUTATION
23. Mitochondrial changes within axons in multiple sclerosis
24. A New Mitochondrial Transfer RNAPro Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features
25. 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
26. Resistance training in patients with single, large-scale deletions of mitochondrial DNA
27. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
28. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation
29. Relative Rates of Evolution in the Coding and Control Regions of African mtDNAs
30. Diabetes and Deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
31. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
32. Experimental Strategies Towards Treating Mitochondrial DNA Disorders
33. Mutation of the Linker Region of the Polymerase γ-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
34. Mitochondrial DNA Mutations and Aging
35. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions
36. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants
37. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast
38. OPHTHALMOPLEGIA DUE TO MITOCHONDRIAL DNA DISEASE: THE NEED for GENETIC DIAGNOSIS
39. Neuropathological Aspects of Mitochondrial DNA Disease
40. Mitochondrial DNA mutations in human colonic crypt stem cells
41. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
42. Defining the Importance of Mitochondrial Gene Defects in Maternally Inherited Diabetes by Sequencing the Entire Mitochondrial Genome
43. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis
44. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates
45. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations
46. Decreased Insulin Responsiveness of Glucose Uptake in Cultured Human Skeletal Muscle Cells From Insulin-Resistant Nondiabetic Relatives of Type 2 Diabetic Families
47. Mitochondrial DNA analysis: polymorphisms and pathogenicity
48. Clinical mitochondrial genetics
49. Methylene blue and fatal encephalopathy from ackee fruit poisoning
50. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina
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