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Your search keyword '"Tuppen HA"' showing total 27 results

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27 results on '"Tuppen HA"'

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1. Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease.

2. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

4. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

5. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

6. Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.

7. Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

8. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

9. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.

10. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

11. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

12. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

13. The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.

14. Human mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutations.

15. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.

16. Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.

17. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

18. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

19. Mitochondrial DNA disease: new options for prevention.

20. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.

21. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

22. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

23. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

24. Mitochondrial DNA mutations and human disease.

25. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

26. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

27. Homoplasmy, heteroplasmy, and mitochondrial dystonia.

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