37 results on '"Turnbull, Douglass M."'
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2. Erratum: Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
3. Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations
4. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
5. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations
6. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences
7. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease
8. Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions
9. Maternally inherited mitochondrial DNA disease in consanguineous families
10. Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death
11. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
12. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
13. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?
14. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation
15. Investigation of the mitochondrial genome in patients with atypical motor neuron disease
16. Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?
17. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
18. Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis
19. Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?
20. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation
21. Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree
22. Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells
23. A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome
24. Neuropathological Aspects of Mitochondrial DNA Disease
25. Mitochondrial Fatty Acid β-Oxidation in the Retinal Pigment Epithelium
26. Analysis of Mitochondrial Fatty Acid Oxidation Intermediates by Tandem Mass Spectrometry from Intact Mitochondria Prepared from Homogenates of Cultured Fibroblasts, Skeletal Muscle Cells, and Fresh Muscle
27. A roundabout route to gene therapy
28. Leigh disease associated with a novel mitochondrial DNA ND5 mutation
29. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation
30. Might mammalian mitochondria merge?
31. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
32. Reversal of a mitochondrial DNA defect in human skeletal muscle
33. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids
34. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain
35. Fatty Acid Oxidation in Peripheral Blood Cells: Characterization and Use for the Diagnosis of Defects of Fatty Acid Oxidation
36. Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
37. Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain
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