Thorburn DR - Search Results

1

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.

Rius R, Van Bergen NJ, Compton AG, Riley LG, Kava MP, Balasubramaniam S, Amor DJ, Fanjul-Fernandez M, Cowley MJ, Fahey MC, Koenig MK, Enns GM, Sadedin S, Wilson MJ, Tan TY, Thorburn DR, Christodoulou J. Rius R, et al. Among authors: thorburn dr. J Clin Med. 2019 Nov 19;8(11):2020. doi: 10.3390/jcm8112020. J Clin Med. 2019. PMID: 31752325 Free PMC article.

2

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

3

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: thorburn dr. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

4

Mitochondrial electron transport chain defect presenting as hypoglycemia.

Freckmann ML, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, Christodoulou J. Freckmann ML, et al. Among authors: thorburn dr. J Pediatr. 1997 Mar;130(3):431-6. doi: 10.1016/s0022-3476(97)70206-3. J Pediatr. 1997. PMID: 9063420

5

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

Mowat D, Kirby DM, Kamath KR, Kan A, Thorburn DR, Christodoulou J. Mowat D, et al. Among authors: thorburn dr. J Pediatr. 1999 Mar;134(3):352-4. doi: 10.1016/s0022-3476(99)70463-4. J Pediatr. 1999. PMID: 10064675 Review.

6

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Carpente KH, Wilcken B, Christodoulou J, Thorburn DR. Carpente KH, et al. Among authors: thorburn dr. J Inherit Metab Dis. 2000 Dec;23(8):845-6. doi: 10.1023/a:1026721021233. J Inherit Metab Dis. 2000. PMID: 11196112 No abstract available.

7

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

8

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Setterfield K, Williams AJ, Donald J, Thorburn DR, Kirby DM, Trounce I, Christodoulou J. Setterfield K, et al. Among authors: thorburn dr. Mitochondrion. 2002 May;1(5):437-45. doi: 10.1016/s1567-7249(02)00008-9. Mitochondrion. 2002. PMID: 16120296

9

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Among authors: thorburn dr. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.

10

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.

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