35 results on '"Turnbull, D."'
Search Results
2. Provider attitudes about gaining consent for perinatal autopsy.
3. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
4. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
5. Investigation of mitochondrial function in hereditary spastic paraparesis.
6. Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD.
7. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
8. Mitochondria and ageing.
9. Fatty acid oxidation defects in muscle.
10. Metabolic disorders in children.
11. Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
12. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.
13. Mitochondrial disease in adults: a scale to monitor progression and treatment.
14. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
15. Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
16. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
17. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
18. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
19. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
20. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
21. Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.
22. Myoclonus Epilepsy, Mitochondrial Myopathy, and Cytochrome Oxidase Deficiency.
23. A Systematic Appraisal of Neurosurgical Seizure Prophylaxis: Guidance for Critical Care Management.
24. RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions.
25. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
26. OPA1 in multiple mitochondrial DNA deletion disorders.
27. Homoplasmy, heteroplasmy, and mitochondrial dystonia.
28. MELAS associated with mutations in the POLG1 gene.
29. Diffuse solar ultraviolet radiation.
30. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
31. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
32. Noninvasive, in utero imaging of mouse embryonic heart development with 40-MHz echocardiography.
33. CSF antigliadin antibodies and the Ramsay Hunt syndrome.
34. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.
35. Measurement of 2,4-toluenediamine in urine and serum samples from women with Même or Replicon breast implants.
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