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419 results

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Page 1
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Davidson G, et al. J Neurol. 2012 Aug;259(8):1673-85. doi: 10.1007/s00415-011-6397-y. J Neurol. 2012. PMID: 22302274 Free PMC article.
Variable phenotypes are associated with PMP22 missense mutations.
Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM. Russo M, et al. Among authors: reilly mm. Neuromuscul Disord. 2011 Feb;21(2):106-14. doi: 10.1016/j.nmd.2010.11.011. Epub 2010 Dec 30. Neuromuscul Disord. 2011. PMID: 21194947
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. Feely SM, et al. Among authors: reilly mm. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
Is overwork weakness relevant in Charcot-Marie-Tooth disease?
Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL & CMT-TRAUK Group. Piscosquito G, et al. Among authors: reilly mm. J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1354-8. doi: 10.1136/jnnp-2014-307598. Epub 2014 Mar 21. J Neurol Neurosurg Psychiatry. 2014. PMID: 24659795
Responsiveness of clinical outcome measures in Charcot-Marie-Tooth disease.
Piscosquito G, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Calabrese D, Hughes RA, Radice D, Solari A, Pareyson D; CMT-TRIAAL Group; CMT-TRAUK Group. Piscosquito G, et al. Among authors: reilly mm. Eur J Neurol. 2015 Dec;22(12):1556-63. doi: 10.1111/ene.12783. Epub 2015 Jul 31. Eur J Neurol. 2015. PMID: 26227902
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: reilly mm. 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.
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.
Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RA, Solari A; CMT-TRIAAL; CMT-TRAUK groups. Pareyson D, et al. Among authors: reilly mm. Lancet Neurol. 2011 Apr;10(4):320-8. doi: 10.1016/S1474-4422(11)70025-4. Lancet Neurol. 2011. PMID: 21393063 Free PMC article. Clinical Trial.
419 results