70 results on '"Turnbull, Douglass M."'
Search Results
2. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease
3. Genetic and biochemical intricacy shapes mitochondrial cytopathies
4. Neuronal oscillations: A physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?
5. The prevalence of mitochondrial disease in the adult population
6. Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans
7. Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutation
8. Mitochondrial Abnormality Associates with Type-Specific Neuronal Loss and Cell Morphology Changes in the Pedunculopontine Nucleus in Parkinson Disease
9. Chronic progressive external ophthalmoplegia — Disease mechanisms and clinical outcome measures
10. Endocrine disorders in mitochondrial disease
11. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease
12. The m.3291T>C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease
13. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
14. Transcriptome analysis in mitochondrial disorders
15. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits
16. Differences in the accumulation of mitochondrial defects with age in mice and humans
17. A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle
18. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
19. A neurological perspective on mitochondrial disease
20. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells
21. Mitochondrial DNA mutations and human disease
22. Neuromuscular disease presentation with three genetic defects involving two genomes
23. Searching for the needle in the Haystacks
24. Do organellar genomes function as long-term redox damage sensors?
25. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy
26. Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells
27. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
28. Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons
29. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells
30. An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI
31. Mitochondrial DNA Transcription: Regulating the Power Supply
32. Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia
33. Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
34. Mitochondrial DNA and survival after sepsis: a prospective study
35. mtDNA mutations and common neurodegenerative disorders
36. Assigning pathogenicity to mitochondrial tRNA mutations: when ‘definitely maybe’ is not good enough
37. Strategies for treating disorders of the mitochondrial genome
38. The epidemiology of mitochondrial disorders—past, present and future
39. Childhood neurological presentation of a novel mitochondrial tRNAVal gene mutation
40. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene
41. Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease
42. The diagnosis of mitochondrial muscle disease
43. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis
44. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired
45. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
46. A homoplasmic mitochondrial transfer Ribonucleic Acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
47. Changes in the human mitochondrial genome after treatment of malignant disease
48. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
49. A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy
50. GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.