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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.
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
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.
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.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S. Rebelo AP, et al. Among authors: sweeney mg. Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040688 Free PMC article.
The phenotypic manifestations of chromosome 17p11.2 duplication.
Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, Muddle JR, Tyson J, Malcolm S, Harding AE. Thomas PK, et al. Among authors: sweeney mg. Brain. 1997 Mar;120 ( Pt 3):465-78. doi: 10.1093/brain/120.3.465. Brain. 1997. PMID: 9126058
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.
101 results