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2011 1
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2023 4
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13 results

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Page 1
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.
Bertini A, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Tagliapietra M, Grandis M, Previtali SC, Falzone YM, Allegri I, Padua L, Pazzaglia C, Tramacere I, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Vita G, Prada V, Zuccarino R, Ferraro F, Pisciotta C, Pareyson D; Italian CMT Network. Bertini A, et al. Among authors: cavalca e. J Neurol Neurosurg Psychiatry. 2024 Apr 12;95(5):434-441. doi: 10.1136/jnnp-2023-332422. J Neurol Neurosurg Psychiatry. 2024. PMID: 37918904 Free PMC article.
An empowered, clinically viable hematopoietic stem cell gene therapy for the treatment of multisystemic mucopolysaccharidosis type II.
Das S, Rruga F, Montepeloso A, Dimartino A, Spadini S, Corre G, Patel J, Cavalca E, Ferro F, Gatti A, Milazzo R, Galy A, Politi LS, Rizzardi GP, Vallanti G, Poletti V, Biffi A. Das S, et al. Among authors: cavalca e. Mol Ther. 2024 Mar 6;32(3):619-636. doi: 10.1016/j.ymthe.2024.01.034. Epub 2024 Feb 3. Mol Ther. 2024. PMID: 38310355
Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
Bellofatto M, Gentile L, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Scarlato M, Allegri I, Padua L, Pazzaglia C, Villani F, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Russo M, Mazzeo A, Vita G, Piacentini S, Didato G, Pisciotta C, Pareyson D; Italian C. M. T. Network. Bellofatto M, et al. Among authors: cavalca e. J Neurol. 2023 Nov;270(11):5561-5568. doi: 10.1007/s00415-023-11911-y. Epub 2023 Aug 4. J Neurol. 2023. PMID: 37540277 Free PMC article.
Correction to: Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.
Bellofatto M, Gentile L, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Scarlato M, Allegri I, Padua L, Pazzaglia C, Villani F, Cavalca E, Saveri P, Quattrone A, Valentino P, Tozza S, Russo M, Mazzeo A, Vita G, Piacentini S, Didato G, Pisciotta C, Pareyson D; Italian C. M. T. Network. Bellofatto M, et al. Among authors: cavalca e. J Neurol. 2023 Nov;270(11):5569-5570. doi: 10.1007/s00415-023-11989-4. J Neurol. 2023. PMID: 37733102 Free PMC article. No abstract available.
13 results