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89 results

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Page 1
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Among authors: pisciotta c. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
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.
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
Charcot-Marie-Tooth disease: New insights from skin biopsy.
Manganelli F, Nolano M, Pisciotta C, Provitera V, Fabrizi GM, Cavallaro T, Stancanelli A, Caporaso G, Shy ME, Santoro L. Manganelli F, et al. Among authors: pisciotta c. Neurology. 2015 Oct 6;85(14):1202-8. doi: 10.1212/WNL.0000000000001993. Epub 2015 Sep 11. Neurology. 2015. PMID: 26362287 Free PMC article.
Nerve conduction velocity in CMT1A: what else can we tell?
Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group. Manganelli F, et al. Among authors: pisciotta c. Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14. Eur J Neurol. 2016. PMID: 27412484 Free PMC article. Clinical Trial.
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.
Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Manganelli F, et al. Among authors: pisciotta c. Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3. Neurology. 2017. PMID: 28468842 Free PMC article.
89 results