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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: murphy sm. Neurology. 2012 Sep 11;79(11):1145-54. doi: 10.1212/WNL.0b013e3182698d8d. Epub 2012 Aug 29. Neurology. 2012. PMID: 22933740 Free PMC article.
Mutation in FAM134B causing severe hereditary sensory neuropathy.
Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Murphy SM, et al. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28. J Neurol Neurosurg Psychiatry. 2012. PMID: 21115472 Free PMC article.
A painful right leg.
Smith LJ, Murphy SM, Holmes P, Reilly MM, Reiniger L, Thom M, Lunn MP. Smith LJ, et al. Among authors: murphy sm. BMJ. 2011 Mar 16;342:d1009. doi: 10.1136/bmj.d1009. BMJ. 2011. PMID: 21411806 No abstract available.
Charcot-Marie-Tooth disease.
Reilly MM, Murphy SM, Laurá M. Reilly MM, et al. Among authors: murphy sm. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x. J Peripher Nerv Syst. 2011. PMID: 21504497 Review.
Phenotype expression in women with CMT1X.
Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Siskind CE, et al. Among authors: murphy sm. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x. J Peripher Nerv Syst. 2011. PMID: 21692908
Hand weakness in Charcot-Marie-Tooth disease 1X.
Arthur-Farraj PJ, Murphy SM, Laura M, Lunn MP, Manji H, Blake J, Ramdharry G, Fox Z, Reilly MM. Arthur-Farraj PJ, et al. Among authors: murphy sm. Neuromuscul Disord. 2012 Jul;22(7):622-6. doi: 10.1016/j.nmd.2012.02.008. Epub 2012 Mar 28. Neuromuscul Disord. 2012. PMID: 22464564 Free PMC article.
414 results