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Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. Among authors: pitceathly rd. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 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. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. Nesbitt V, et al. Among authors: pitceathly rd. J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):936-8. doi: 10.1136/jnnp-2012-303528. Epub 2013 Jan 25. J Neurol Neurosurg Psychiatry. 2013. PMID: 23355809
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.
Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Cell Rep. 2013 Jun 27;3(6):1795-805. doi: 10.1016/j.celrep.2013.05.005. Epub 2013 Jun 6. Cell Rep. 2013. PMID: 23746447 Free PMC article.
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. Pitceathly RD, et al. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242. JAMA Neurol. 2013. PMID: 24100867
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Among authors: pitceathly rd. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S. Rajakulendran S, et al. Among authors: pitceathly rd. PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016. PLoS One. 2016. PMID: 26735972 Free PMC article.
92 results