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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. 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
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. Eur J Neurol. 2015 Dec;22(12):1556-63. doi: 10.1111/ene.12783. Epub 2015 Jul 31. Eur J Neurol. 2015. PMID: 26227902
Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.
Pazzaglia C, Padua L, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Coraci D, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group. Pazzaglia C, et al. Among authors: russo m. Neuromuscul Disord. 2019 Apr;29(4):310-316. doi: 10.1016/j.nmd.2019.01.009. Epub 2019 Feb 2. Neuromuscul Disord. 2019. PMID: 30926199
Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.
Padua L, Pazzaglia C, Pareyson D, Schenone A, Aiello A, Fabrizi GM, Cavallaro T, Santoro L, Manganelli F, Gemignani F, Vitetta F, Quattrone A, Mazzeo A, Russo M, Vita G; CMT-TRIAAL Group. Padua L, et al. Among authors: russo m. Eur J Neurol. 2016 Aug;23(8):1343-50. doi: 10.1111/ene.13033. Epub 2016 May 10. Eur J Neurol. 2016. PMID: 27160471
3,744 results