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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1984 2
1985 1
1987 4
1989 2
1990 1
1991 1
1993 5
1994 1
1995 4
1996 1
1997 7
1998 3
1999 9
2000 6
2001 5
2002 2
2003 4
2004 13
2005 6
2006 5
2007 7
2008 10
2009 4
2010 4
2011 11
2012 9
2013 10
2014 10
2015 12
2016 15
2017 15
2018 5
2019 13
2020 9
2021 12
2022 9
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Article type
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Search Results

207 results
Results by year
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Page 1
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.
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Among authors: thorburn dr. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506407 Free article. Review.
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.
Mitochondrial dysfunction in diabetic kidney disease.
Forbes JM, Thorburn DR. Forbes JM, et al. Among authors: thorburn dr. Nat Rev Nephrol. 2018 May;14(5):291-312. doi: 10.1038/nrneph.2018.9. Epub 2018 Feb 19. Nat Rev Nephrol. 2018. PMID: 29456246 Review.
Mitochondrial DNA-Associated Leigh Syndrome and NARP.
Thorburn DR, Rahman J, Rahman S. Thorburn DR, et al. 2003 Oct 30 [updated 2017 Sep 28]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2003 Oct 30 [updated 2017 Sep 28]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301352 Free Books & Documents. Review.
A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK. Pagliarini DJ, et al. Among authors: thorburn dr. Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016. Cell. 2008. PMID: 18614015 Free PMC article.
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK. Calvo SE, et al. Among authors: thorburn dr. Nat Genet. 2010 Oct;42(10):851-8. doi: 10.1038/ng.659. Epub 2010 Sep 5. Nat Genet. 2010. PMID: 20818383 Free PMC article.
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Parikh S, et al. Among authors: thorburn dr. J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25. J Med Genet. 2019. PMID: 30683676 Review.
207 results