Thorburn DR - Search Results

1

Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.

Sexton AC, Sahhar M, Thorburn DR, Metcalfe SA. Sexton AC, et al. Among authors: thorburn dr. J Genet Couns. 2008 Jun;17(3):261-73. doi: 10.1007/s10897-007-9145-9. Epub 2008 Feb 12. J Genet Couns. 2008. PMID: 18266093

2

Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

White SL, Collins VR, Wolfe R, Cleary MA, Shanske S, DiMauro S, Dahl HH, Thorburn DR. White SL, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):474-82. doi: 10.1086/302488. Am J Hum Genet. 1999. PMID: 10417290 Free PMC article.

3

Diagnosis of mitochondrial disorders: clinical and biochemical approach.

Thorburn DR, Smeitink J. Thorburn DR, et al. J Inherit Metab Dis. 2001 Apr;24(2):312-6. doi: 10.1023/a:1010347808082. J Inherit Metab Dis. 2001. PMID: 11405352

4

Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.

Thorburn DR, Dahl HH. Thorburn DR, et al. Am J Med Genet. 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380. Am J Med Genet. 2001. PMID: 11579429 Review.

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

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.

7

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Thorburn DR, Sugiana C, Salemi R, Kirby DM, Worgan L, Ohtake A, Ryan MT. Thorburn DR, et al. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):121-8. doi: 10.1016/j.bbabio.2004.08.006. Biochim Biophys Acta. 2004. PMID: 15576043 Free article. Review.

8

Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.

Kirby DM, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. Twin Res Hum Genet. 2008 Aug;11(4):395-411. doi: 10.1375/twin.11.4.395. Twin Res Hum Genet. 2008. PMID: 18637740 Review.

9

Recent advances in the genetics of mitochondrial encephalopathies.

Tucker EJ, Compton AG, Thorburn DR. Tucker EJ, et al. Among authors: thorburn dr. Curr Neurol Neurosci Rep. 2010 Jul;10(4):277-85. doi: 10.1007/s11910-010-0112-8. Curr Neurol Neurosci Rep. 2010. PMID: 20446063 Review.

10

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Gorman GS, et al. Among authors: thorburn dr. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

235 results

Search Page