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Results by year

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

Year Number of Results
1975 1
1978 1
1980 1
1981 2
1982 1
1984 2
1985 2
1987 4
1989 2
1990 2
1991 3
1992 1
1993 7
1994 2
1995 4
1996 2
1997 10
1998 4
1999 10
2000 6
2001 7
2002 3
2003 11
2004 14
2005 9
2006 9
2007 10
2008 11
2009 6
2010 8
2011 13
2012 24
2013 21
2014 15
2015 19
2016 22
2017 35
2018 28
2019 45
2020 37
2021 33
2022 36
2023 33
2024 21

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Search Results

463 results

Results by year

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Page 1
Primary sclerosing cholangitis - a comprehensive review.
Karlsen TH, Folseraas T, Thorburn D, Vesterhus M. Karlsen TH, et al. Among authors: thorburn d. J Hepatol. 2017 Dec;67(6):1298-1323. doi: 10.1016/j.jhep.2017.07.022. Epub 2017 Aug 10. J Hepatol. 2017. PMID: 28802875 Free article. Review.
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.
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.
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.
A disease-associated gene desert directs macrophage inflammation through ETS2.
Stankey CT, Bourges C, Haag LM, Turner-Stokes T, Piedade AP, Palmer-Jones C, Papa I, Silva Dos Santos M, Zhang Q, Cameron AJ, Legrini A, Zhang T, Wood CS, New FN, Randzavola LO, Speidel L, Brown AC, Hall A, Saffioti F, Parkes EC, Edwards W, Direskeneli H, Grayson PC, Jiang L, Merkel PA, Saruhan-Direskeneli G, Sawalha AH, Tombetti E, Quaglia A, Thorburn D, Knight JC, Rochford AP, Murray CD, Divakar P, Green M, Nye E, MacRae JI, Jamieson NB, Skoglund P, Cader MZ, Wallace C, Thomas DC, Lee JC. Stankey CT, et al. Among authors: thorburn d. Nature. 2024 Jun;630(8016):447-456. doi: 10.1038/s41586-024-07501-1. Epub 2024 Jun 5. Nature. 2024. PMID: 38839969 Free PMC article.
Mitochondrial DNA-Associated Leigh Syndrome Spectrum.
Ball M, Thorburn DR, Rahman S. Ball M, et al. Among authors: thorburn dr. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301352 Free Books & Documents. Review.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: thorburn dr. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
The British Society of Gastroenterology/UK-PBC primary biliary cholangitis treatment and management guidelines.
Hirschfield GM, Dyson JK, Alexander GJM, Chapman MH, Collier J, Hübscher S, Patanwala I, Pereira SP, Thain C, Thorburn D, Tiniakos D, Walmsley M, Webster G, Jones DEJ. Hirschfield GM, et al. Among authors: thorburn d. Gut. 2018 Sep;67(9):1568-1594. doi: 10.1136/gutjnl-2017-315259. Epub 2018 Mar 28. Gut. 2018. PMID: 29593060 Free PMC article.
463 results