Thorburn DR - Search Results

1

Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant.

Wong WK, Balasubramaniam S, Wong RSH, Graf N, Thorburn DR, McFarland R, Troedson C. Wong WK, et al. Among authors: thorburn dr. JIMD Rep. 2022 Aug 24;63(6):546-554. doi: 10.1002/jmd2.12326. eCollection 2022 Nov. JIMD Rep. 2022. PMID: 36341169 Free PMC article.

2

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

3

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ. Compton AG, et al. Among authors: thorburn dr. Mitochondrion. 2011 Jan;11(1):104-7. doi: 10.1016/j.mito.2010.07.012. Epub 2010 Aug 12. Mitochondrion. 2011. PMID: 20708716

4

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW. Tuppen HA, et al. Among authors: thorburn dr. Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6. Brain. 2010. PMID: 20819849 Free PMC article.

5

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Swalwell H, et al. Among authors: thorburn dr. Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364701 Free PMC article.

6

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Elson JL, Sweeney MG, Procaccio V, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RD, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R. Elson JL, et al. Among authors: thorburn dr. Hum Mutat. 2012 Sep;33(9):1352-8. doi: 10.1002/humu.22118. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22581690 Free PMC article.

7

Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.

De Greef E, Christodoulou J, Alexander IE, Shun A, O'Loughlin EV, Thorburn DR, Jermyn V, Stormon MO. De Greef E, et al. Among authors: thorburn dr. JIMD Rep. 2012;4:5-11. doi: 10.1007/8904_2011_29. Epub 2011 Nov 4. JIMD Rep. 2012. PMID: 23430890 Free PMC article.

8

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S. Mordaunt DA, et al. Among authors: thorburn dr. Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899669 Review.

9

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

Duff RM, Shearwood AM, Ermer J, Rossetti G, Gooding R, Richman TR, Balasubramaniam S, Thorburn DR, Rackham O, Lamont PJ, Filipovska A. Duff RM, et al. Among authors: thorburn dr. Mitochondrion. 2015 Nov;25:113-9. doi: 10.1016/j.mito.2015.10.008. Epub 2015 Oct 30. Mitochondrion. 2015. PMID: 26524491 Free article.

10

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

Riley LG, Rudinger-Thirion J, Schmitz-Abe K, Thorburn DR, Davis RL, Teo J, Arbuckle S, Cooper ST, Campagna DR, Frugier M, Markianos K, Sue CM, Fleming MD, Christodoulou J. Riley LG, et al. Among authors: thorburn dr. JIMD Rep. 2016;28:49-57. doi: 10.1007/8904_2015_515. Epub 2015 Nov 5. JIMD Rep. 2016. PMID: 26537577 Free PMC article.

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