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2013 1
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Page 1
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: gemelli c. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Brain. 2024 Jan 9:awad436. doi: 10.1093/brain/awad436. Online ahead of print. Brain. 2024. PMID: 38193360
Case report: Episodic ataxia without ataxia?
Gaudio A, Gotta F, Ponti C, Sanguineri F, Trevisan L, Geroldi A, Patrone S, Gemelli C, Cabona C, Astrea G, Fiorillo C, Gustincich S, Grandis M, Mandich P. Gaudio A, et al. Among authors: gemelli c. Front Neurol. 2023 Oct 26;14:1224241. doi: 10.3389/fneur.2023.1224241. eCollection 2023. Front Neurol. 2023. PMID: 37965175 Free PMC article.
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.
Tini G, Vianello PF, Gemelli C, Grandis M, Canepa M. Tini G, et al. Among authors: gemelli c. J Cardiovasc Transl Res. 2019 Dec;12(6):514-516. doi: 10.1007/s12265-018-9859-0. Epub 2019 Jan 2. J Cardiovasc Transl Res. 2019. PMID: 30604309 Review.
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
Salvalaggio A, Coraci D, Obici L, Cacciavillani M, Luigetti M, Mazzeo A, Pastorelli F, Grandis M, Cavallaro T, Bisogni G, Lozza A, Gemelli C, Gentile L, Russo M, Ermani M, Fabrizi GM, Plasmati R, De Napoli F, Campagnolo M, Castellani F, Salvi F, Fenu S, Devigili G, Pareyson D, Gasparotti R, Rapezzi C, Martinoli C, Padua L, Briani C. Salvalaggio A, et al. Among authors: gemelli c. J Neurol. 2022 Apr;269(4):1905-1912. doi: 10.1007/s00415-021-10754-9. Epub 2021 Aug 19. J Neurol. 2022. PMID: 34410494 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. 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.
Novel TRIM32 mutation in sarcotubular myopathy.
Panicucci C, Traverso M, Baratto S, Romeo C, Iacomino M, Gemelli C, Tagliafico A, Broda P, Zara F, Bruno C, Minetti C, Fiorillo C. Panicucci C, et al. Among authors: gemelli c. Acta Myol. 2019 Mar 1;38(1):8-12. eCollection 2019 Mar. Acta Myol. 2019. PMID: 31309175 Free PMC article.
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. 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.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
Gemelli C, Traverso M, Trevisan L, Fabbri S, Scarsi E, Carlini B, Prada V, Mongini T, Ruggiero L, Patrone S, Gallone S, Iodice R, Pisciotta L, Zara F, Origone P, Rota E, Minetti C, Bruno C, Schenone A, Mandich P, Fiorillo C, Grandis M. Gemelli C, et al. Muscle Nerve. 2022 Jan;65(1):96-104. doi: 10.1002/mus.27448. Epub 2021 Nov 8. Muscle Nerve. 2022. PMID: 34687219 Free PMC article.
33 results