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Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, Magariello A, Bella VL, Tessitore A, Tedeschi G, Simone IL, Majorana G, Valentino P, Citrigno L, Gabriele A, Bono F, Monsurrò MR, Muglia M, Quattrone A. Luisa Conforti F, et al. Among authors: simone il. Amyotroph Lateral Scler. 2009 Feb;10(1):58-60. doi: 10.1080/17482960802163853. Amyotroph Lateral Scler. 2009. PMID: 18608106
Colchicine treatment in amyotrophic lateral sclerosis: safety, biological and clinical effects in a randomized clinical trial.
Gianferrari G, Cuoghi Costantini R, Crippa V, Carra S, Bonetto V, Pansarasa O, Cereda C, Zucchi E, Martinelli I, Simonini C, Vicini R, Fini N, Trojsi F, Passaniti C, Ticozzi N, Doretti A, Diamanti L, Fiamingo G, Conte A, Dalla Bella E, D'Errico E, Scarian E, Pasetto L, Antoniani F, Galli V, Casarotto E; Co-ALS Investigators Group; D'Amico R, Poletti A, Mandrioli J. Gianferrari G, et al. Brain Commun. 2024 Sep 5;6(5):fcae304. doi: 10.1093/braincomms/fcae304. eCollection 2024. Brain Commun. 2024. PMID: 39291166 Free PMC article. Clinical Trial.
Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
Govoni A, Ricci G, Bonanno S, Bello L, Magri F, Meneri M, Torri F, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Gadaleta G, Capece G, Caumo L, Tanel R, Saccani E, Vacchiano V, Sorarù G, D'Errico E, Tramacere I, Bortolani S, Rolle E, Gellera C, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Maioli MA, Simone IL, Mongini T, Corti S, Manca ML, Pegoraro E, Siciliano G, Comi GP, Maggi L. Govoni A, et al. Among authors: simone il. Muscle Nerve. 2024 Oct;70(4):816-823. doi: 10.1002/mus.28225. Epub 2024 Aug 2. Muscle Nerve. 2024. PMID: 39096012 Free article.
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R, Maioli MA, Silvestrini M, Previtali SC, Berardinelli A, Turri M, Coccia M, Mantegazza R, Liguori R, Filosto M, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E, Maggi L. Vicino A, et al. Among authors: simone il. Neuromuscul Disord. 2023 Dec;33(12):911-916. doi: 10.1016/j.nmd.2023.10.002. Epub 2023 Oct 12. Neuromuscul Disord. 2023. PMID: 37945485
Acoustic Voice Analysis as a Useful Tool to Discriminate Different ALS Phenotypes.
Milella G, Sciancalepore D, Cavallaro G, Piccirilli G, Nanni AG, Fraddosio A, D'Errico E, Paolicelli D, Fiorella ML, Simone IL. Milella G, et al. Among authors: simone il. Biomedicines. 2023 Aug 31;11(9):2439. doi: 10.3390/biomedicines11092439. Biomedicines. 2023. PMID: 37760880 Free PMC article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.
Canosa A, Calvo A, Mora G, Moglia C, Brunetti M, Barberis M, Borghero G, Caponnetto C, Trojsi F, Spataro R, Volanti P, Simone IL, Salvi F, Logullo FO, Riva N, Tremolizzo L, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Conforti FL, Zollino M, Sabatelli M, Tarlarini C, Lunetta C, Mazzini L, D'Alfonso S, Guy N, Meininger V, Clavelou P, Camu W, Chiò A, On Behalf Of Italsgen Consortium. Canosa A, et al. Among authors: simone il. Biomedicines. 2023 Feb 24;11(3):704. doi: 10.3390/biomedicines11030704. Biomedicines. 2023. PMID: 36979682 Free PMC article.
131 results