Thorburn DR - Search Results

1

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: thorburn dr. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598

2

A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.

Blok RB, Thorburn DR, Thompson GN, Dahl HH. Blok RB, et al. Among authors: thorburn dr. Hum Genet. 1995 Jan;95(1):75-81. doi: 10.1007/BF00225079. Hum Genet. 1995. PMID: 7814031

3

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Among authors: thorburn dr. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

4

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.

Blok RB, Gook DA, Thorburn DR, Dahl HH. Blok RB, et al. Among authors: thorburn dr. Am J Hum Genet. 1997 Jun;60(6):1495-501. doi: 10.1086/515453. Am J Hum Genet. 1997. PMID: 9199572 Free PMC article.

5

The molecular basis of malonyl-CoA decarboxylase deficiency.

FitzPatrick DR, Hill A, Tolmie JL, Thorburn DR, Christodoulou J. FitzPatrick DR, et al. Among authors: thorburn dr. Am J Hum Genet. 1999 Aug;65(2):318-26. doi: 10.1086/302492. Am J Hum Genet. 1999. PMID: 10417274 Free PMC article.

6

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.

7

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR. Kirby DM, et al. Among authors: thorburn dr. J Clin Invest. 2004 Sep;114(6):837-45. doi: 10.1172/JCI20683. J Clin Invest. 2004. PMID: 15372108 Free PMC article.

8

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

Lamont PJ, Thorburn DR, Fabian V, Vajsar J, Hawkins C, Saada Reisch A, Durling H, Laing NG, Nevo Y. Lamont PJ, et al. Among authors: thorburn dr. Neuropediatrics. 2004 Oct;35(5):302-6. doi: 10.1055/s-2004-821243. Neuropediatrics. 2004. PMID: 15534765

9

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

Biggin A, Henke R, Bennetts B, Thorburn DR, Christodoulou J. Biggin A, et al. Among authors: thorburn dr. Mol Genet Metab. 2005 Jan;84(1):61-74. doi: 10.1016/j.ymgme.2004.09.011. Epub 2004 Nov 11. Mol Genet Metab. 2005. PMID: 15639196

10

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.

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