Thorburn DR - Search Results

1

Mitochondrial disease in adults: recent advances and future promise.

Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Ng YS, et al. Among authors: thorburn dr. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.

2

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Ann Neurol. 2000 Jul;48(1):102-4. Ann Neurol. 2000. PMID: 10894222

3

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl HM, Turnbull DM, Lightowlers RN, Howell N. Chinnery PF, et al. Among authors: thorburn dr. Trends Genet. 2000 Nov;16(11):500-5. doi: 10.1016/s0168-9525(00)02120-x. Trends Genet. 2000. PMID: 11074292

4

Diagnostic criteria for respiratory chain disorders in adults and children.

Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Bernier FP, et al. Among authors: thorburn dr. Neurology. 2002 Nov 12;59(9):1406-11. doi: 10.1212/01.wnl.0000033795.17156.00. Neurology. 2002. PMID: 12427892

5

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

Skladal D, Halliday J, Thorburn DR. Skladal D, et al. Among authors: thorburn dr. Brain. 2003 Aug;126(Pt 8):1905-12. doi: 10.1093/brain/awg170. Epub 2003 May 21. Brain. 2003. PMID: 12805096

6

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Ann Neurol. 2003 Oct;54(4):473-8. doi: 10.1002/ana.10687. Ann Neurol. 2003. PMID: 14520659

7

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. McFarland R, et al. Among authors: thorburn dr. Ann Neurol. 2004 Jan;55(1):58-64. doi: 10.1002/ana.10787. Ann Neurol. 2004. PMID: 14705112

8

Mitochondrial disorders: prevalence, myths and advances.

Thorburn DR. Thorburn DR. J Inherit Metab Dis. 2004;27(3):349-62. doi: 10.1023/B:BOLI.0000031098.41409.55. J Inherit Metab Dis. 2004. PMID: 15190193 Review.

9

No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.

Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Majamaa K, Wilichowski E, Thorburn DR. Deschauer M, et al. Among authors: thorburn dr. J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1204-5. doi: 10.1136/jnnp.2003.026278. J Neurol Neurosurg Psychiatry. 2004. PMID: 15258237 Free PMC article. No abstract available.

10

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: thorburn dr. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359

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