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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. 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.
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Manganelli F, Pisciotta C, Nolano M, Capponi S, Geroldi A, Topa A, Bellone E, Suls A, Mandich P, Santoro L. Manganelli F, et al. Among authors: pisciotta c. J Peripher Nerv Syst. 2012 Sep;17(3):351-5. doi: 10.1111/j.1529-8027.2012.00414.x. J Peripher Nerv Syst. 2012. PMID: 22971097
Small nerve fiber involvement in CMT1A.
Nolano M, Manganelli F, Provitera V, Pisciotta C, Stancanelli A, Caporaso G, Iodice R, Shy ME, Santoro L. Nolano M, et al. Among authors: pisciotta c. Neurology. 2015 Jan 27;84(4):407-14. doi: 10.1212/WNL.0000000000001188. Epub 2014 Dec 24. Neurology. 2015. PMID: 25540311 Free PMC article.
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
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.
Pezzini I, Geroldi A, Capponi S, Gulli R, Schenone A, Grandis M, Doria-Lamba L, La Piana C, Cremonte M, Pisciotta C, Nolano M, Manganelli F, Santoro L, Mandich P, Bellone E. Pezzini I, et al. Among authors: pisciotta c. Neuromuscul Disord. 2016 Jan;26(1):26-32. doi: 10.1016/j.nmd.2015.09.008. Epub 2015 Sep 16. Neuromuscul Disord. 2016. PMID: 26525999
85 results