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

Year Number of Results
1980 3
1981 1
1982 3
1983 5
1984 8
1985 5
1986 2
1987 3
1988 10
1989 9
1990 5
1991 9
1992 9
1993 10
1994 12
1995 11
1996 12
1997 20
1998 15
1999 14
2000 21
2001 25
2002 25
2003 18
2004 26
2005 14
2006 24
2007 25
2008 19
2009 28
2010 23
2011 21
2012 26
2013 21
2014 16
2015 25
2016 32
2017 14
2018 20
2019 19
2020 19
2021 11
2022 8
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Search Results

599 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: turnbull dm. Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Nat Rev Dis Primers. 2016. PMID: 27775730 Review.
Mitochondrial Diseases: Hope for the Future.
Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Russell OM, et al. Among authors: turnbull dm. Cell. 2020 Apr 2;181(1):168-188. doi: 10.1016/j.cell.2020.02.051. Epub 2020 Mar 26. Cell. 2020. PMID: 32220313 Free article. Review.
Mitochondrial disease: genetics and management.
Ng YS, Turnbull DM. Ng YS, et al. Among authors: turnbull dm. J Neurol. 2016 Jan;263(1):179-91. doi: 10.1007/s00415-015-7884-3. Epub 2015 Aug 28. J Neurol. 2016. PMID: 26315846 Free PMC article. Review.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. 100,000 Genomes Project Pilot Investigators, et al. Among authors: turnbull dm. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
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: turnbull dm. Lancet Neurol. 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. Lancet Neurol. 2021. PMID: 34146515 Review.
Diagnosis and Treatment of Mitochondrial Myopathies.
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Ahmed ST, et al. Among authors: turnbull dm. Neurotherapeutics. 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. Neurotherapeutics. 2018. PMID: 30406383 Free PMC article. Review.
The genetics and pathology of mitochondrial disease.
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. Alston CL, et al. Among authors: turnbull dm. J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. J Pathol. 2017. PMID: 27659608 Free PMC article. Review.
Mitochondrial DNA mutations in human disease.
Taylor RW, Turnbull DM. Taylor RW, et al. Among authors: turnbull dm. Nat Rev Genet. 2005 May;6(5):389-402. doi: 10.1038/nrg1606. Nat Rev Genet. 2005. PMID: 15861210 Free PMC article. Review.
Recent Advances in Mitochondrial Disease.
Craven L, Alston CL, Taylor RW, Turnbull DM. Craven L, et al. Among authors: turnbull dm. Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Annu Rev Genomics Hum Genet. 2017. PMID: 28415858 Free article. Review.
Interventions for promoting physical activity in people with neuromuscular disease.
Jones K, Hawke F, Newman J, Miller JA, Burns J, Jakovljevic DG, Gorman G, Turnbull DM, Ramdharry G. Jones K, et al. Among authors: turnbull dm. Cochrane Database Syst Rev. 2021 May 24;5(5):CD013544. doi: 10.1002/14651858.CD013544.pub2. Cochrane Database Syst Rev. 2021. PMID: 34027632 Free PMC article.
599 results