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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: ricci f. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
Early higher dosage of alglucosidase alpha in classic Pompe disease.
Spada M, Pagliardini V, Ricci F, Biamino E, Mongini T, Porta F. Spada M, et al. Among authors: ricci f. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1343-1347. doi: 10.1515/jpem-2018-0336. J Pediatr Endocrinol Metab. 2018. PMID: 30433875
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Coratti G, Pane M, Brogna C, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Hogrel JY, Straub V, De Lucia S, Niks E, Servais L, De Groot I, Chesshyre M, Bertini E, Goemans N, Muntoni F, Mercuri E; on behalf on the International DMD Group and the iMDEX Consortium. Coratti G, et al. Among authors: ricci f. PLoS One. 2021 Jun 25;16(6):e0253882. doi: 10.1371/journal.pone.0253882. eCollection 2021. PLoS One. 2021. PMID: 34170974 Free PMC article.
12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.
Quigg KH, Berggren KN, McIntyre M, Bates K, Salmin F, Casiraghi JL, DʼAmico A, Astrea G, Ricci F, McKay MJ, Baldwin JN, Burns J, Campbell C, Sansone VA, Johnson NE. Quigg KH, et al. Among authors: ricci f. Muscle Nerve. 2021 Mar;63(3):384-391. doi: 10.1002/mus.27147. Epub 2021 Jan 10. Muscle Nerve. 2021. PMID: 33341951 Free PMC article.
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.
Mauri E, Abati E, Musumeci O, Rodolico C, D'Angelo MG, Mirabella M, Lucchini M, Bello L, Pegoraro E, Maggi L, Manneschi L, Gemelli C, Grandis M, Zuppa A, Massucco S, Benedetti L, Caponnetto C, Schenone A, Prelle A, Previtali SC, Scarlato M, D'Amico A, Bertini E, Pennisi EM, De Giglio L, Pane M, Mercuri E, Mongini T, Ricci F, Berardinelli A, Astrea G, Lenzi S, Battini R, Ricci G, Torri F, Siciliano G, Santorelli FM, Ariatti A, Filosto M, Passamano L, Politano L, Scutifero M, Tonin P, Fossati B, Panicucci C, Bruno C, Ravaglia S, Monforte M, Tasca G, Ricci E, Petrucci A, Santoro L, Ruggiero L, Barp A, Albamonte E, Sansone V, Gagliardi D, Costamagna G, Govoni A, Magri F, Brusa R, Velardo D, Meneri M, Sciacco M, Corti S, Bresolin N, Moroni I, Messina S, Di Muzio A, Nigro V, Liguori R, Antonini G, Toscano A, Minetti C, Comi GP; Italian Association of Myology. Mauri E, et al. Among authors: ricci e, ricci f, ricci g. Acta Myol. 2020 Jun 1;39(2):57-66. doi: 10.36185/2532-1900-008. eCollection 2020 Jun. Acta Myol. 2020. PMID: 32904925 Free PMC article.
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.
D'Amico A, Catteruccia M, Baranello G, Politano L, Govoni A, Previtali SC, Pane M, D'Angelo MG, Bruno C, Messina S, Ricci F, Pegoraro E, Pini A, Berardinelli A, Gorni K, Battini R, Vita G, Trucco F, Scutifero M, Petillo R, D'Ambrosio P, Ardissone A, Pasanisi B, Vita G, Mongini T, Moggio M, Comi GP, Mercuri E, Bertini E. D'Amico A, et al. Among authors: ricci f. Neuromuscul Disord. 2017 May;27(5):447-451. doi: 10.1016/j.nmd.2017.02.006. Epub 2017 Feb 14. Neuromuscul Disord. 2017. PMID: 28262469 Free article.
1,363 results