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

Year Number of Results
1991 1
1992 7
1993 4
1994 4
1995 8
1996 1
1997 3
1998 3
1999 3
2000 1
2002 3
2003 4
2004 1
2005 3
2007 3
2008 6
2009 3
2010 2
2011 5
2012 8
2013 9
2014 10
2015 10
2016 5
2017 1
2018 3
2019 1
2022 1
2024 0

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101 results

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Page 1
Extra-ocular muscle MRI in genetically-defined mitochondrial disease.
Pitceathly RD, Morrow JM, Sinclair CD, Woodward C, Sweeney MG, Rahman S, Plant GT, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS. Pitceathly RD, et al. Among authors: sweeney mg. Eur Radiol. 2016 Jan;26(1):130-7. doi: 10.1007/s00330-015-3801-5. Epub 2015 May 21. Eur Radiol. 2016. PMID: 25994195 Free PMC article.
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: sweeney mg. Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508084 Free PMC article.
The role of interruptions in polyQ in the pathology of SCA1.
Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW, Davis MB, Pastore A, Giunti P. Menon RP, et al. Among authors: sweeney mg. PLoS Genet. 2013;9(7):e1003648. doi: 10.1371/journal.pgen.1003648. Epub 2013 Jul 25. PLoS Genet. 2013. PMID: 23935513 Free PMC article.
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
Pitceathly RD, Fassone E, Taanman JW, Sadowski M, Fratter C, Mudanohwo EE, Woodward CE, Sweeney MG, Holton JL, Hanna MG, Rahman S. Pitceathly RD, et al. Among authors: sweeney mg. J Med Genet. 2011 Sep;48(9):610-7. doi: 10.1136/jmg.2010.088328. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378381
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P. Nethisinghe S, et al. Among authors: sweeney mg. Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30532692 Free PMC article.
Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Pitceathly RD, et al. Among authors: sweeney mg. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Mencacci NE, Isaias IU, Reich MM, Ganos C, Plagnol V, Polke JM, Bras J, Hersheson J, Stamelou M, Pittman AM, Noyce AJ, Mok KY, Opladen T, Kunstmann E, Hodecker S, Münchau A, Volkmann J, Samnick S, Sidle K, Nanji T, Sweeney MG, Houlden H, Batla A, Zecchinelli AL, Pezzoli G, Marotta G, Lees A, Alegria P, Krack P, Cormier-Dequaire F, Lesage S, Brice A, Heutink P, Gasser T, Lubbe SJ, Morris HR, Taba P, Koks S, Majounie E, Raphael Gibbs J, Singleton A, Hardy J, Klebe S, Bhatia KP, Wood NW; International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium. Mencacci NE, et al. Among authors: sweeney mg. Brain. 2014 Sep;137(Pt 9):2480-92. doi: 10.1093/brain/awu179. Epub 2014 Jul 2. Brain. 2014. PMID: 24993959 Free PMC article.
PGC-1β mediates adaptive chemoresistance associated with mitochondrial DNA mutations.
Yao Z, Jones AW, Fassone E, Sweeney MG, Lebiedzinska M, Suski JM, Wieckowski MR, Tajeddine N, Hargreaves IP, Yasukawa T, Tufo G, Brenner C, Kroemer G, Rahman S, Szabadkai G. Yao Z, et al. Among authors: sweeney mg. Oncogene. 2013 May 16;32(20):2592-600. doi: 10.1038/onc.2012.259. Epub 2012 Jul 9. Oncogene. 2013. PMID: 22777349
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: sweeney mg. 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.
101 results