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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: scarlato m. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
Bettio C, Banchelli F, Salsi V, Vicini R, Crisafulli O, Ruggiero L, Ricci G, Bucci E, Angelini C, Berardinelli A, Bonanno S, D'Angelo MG, Di Muzio A, Filosto M, Frezza E, Maggi L, Mongini T, Pegoraro E, Rodolico C, Scarlato M, Vattemi G, Velardo D, Tomelleri G, D'Amico R, D'Antona G, Tupler R. Bettio C, et al. Among authors: scarlato m. BMC Musculoskelet Disord. 2024 Jan 5;25(1):35. doi: 10.1186/s12891-023-07150-x. BMC Musculoskelet Disord. 2024. PMID: 38183077 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.
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: scarlato m. 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.
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: scarlato m. 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.
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
Bellofatto M, Bertini A, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Santoro L, Cavallaro T, Grandis M, Previtali SC, Allegri I, Padua L, Pazzaglia C, Calabrese D, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Vita G, Piacentini S, Pisciotta C, Pareyson D; Italian CMT Network. Bellofatto M, et al. J Neurol. 2023 Jan;270(1):394-401. doi: 10.1007/s00415-022-11365-8. Epub 2022 Sep 16. J Neurol. 2023. PMID: 36114297 Free PMC article.
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S, Rubegni A, Riso V, Barghigiani M, Bassi MT, Battini R, Bertini E, Cereda C, Cioffi E, Criscuolo C, Dal Fabbro B, Dato C, D'Angelo MG, Di Muzio A, Diamanti L, Dotti MT, Filla A, Gioiosa V, Liguori R, Martinuzzi A, Massa R, Mignarri A, Moroni R, Musumeci O, Nicita F, Orologio I, Orsi L, Pegoraro E, Petrucci A, Plumari M, Ricca I, Rizzo G, Romano S, Rumore R, Sampaolo S, Scarlato M, Seri M, Stefan C, Straccia G, Tessa A, Travaglini L, Trovato R, Ulgheri L, Vazza G, Orlacchio A, Silvestri G, Santorelli FM, Melone MAB, Casali C. Rossi S, et al. Among authors: scarlato m. Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr. Neurol Genet. 2022. PMID: 35372684 Free PMC article.
74 results