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Charcot-Marie-Tooth disease.
Reilly MM, Murphy SM, Laurá M. Reilly MM, et al. 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.
DNA testing in hereditary neuropathies.
Murphy SM, Laurá M, Reilly MM. Murphy SM, et al. Handb Clin Neurol. 2013;115:213-32. doi: 10.1016/B978-0-444-52902-2.00012-6. Handb Clin Neurol. 2013. PMID: 23931782 Review.
Unintended effects of orphan product designation for rare neurological diseases.
Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Murphy SM, et al. Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672. Ann Neurol. 2012. PMID: 23109143 Free PMC article. Review.
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. 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.
Pain and small fiber function in Charcot-Marie-Tooth disease type 1A.
Laurà M, Hutton EJ, Blake J, Lunn MP, Fox Z, Pareyson D, Solari A, Radice D, Koltzenburg M, Reilly MM. Laurà M, et al. Muscle Nerve. 2014 Sep;50(3):366-71. doi: 10.1002/mus.24169. Epub 2014 May 15. Muscle Nerve. 2014. PMID: 24395492 Clinical Trial.
Asymmetric sensory ganglionopathy: a case series.
Marquez-Infante C, Murphy SM, Mathew L, Alsanousi A, Lunn MP, Brandner S, Yousry TA, Blake J, Reilly MM. Marquez-Infante C, et al. Muscle Nerve. 2013 Jul;48(1):145-50. doi: 10.1002/mus.23772. Epub 2013 Jun 6. Muscle Nerve. 2013. PMID: 23744601
X inactivation in females with X-linked Charcot-Marie-Tooth disease.
Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM. Murphy SM, et al. Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6. Neuromuscul Disord. 2012. PMID: 22483671 Free PMC article.
BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
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. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 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.
25 results