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Page 1
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.
Bello L, Sabbatini D, Fusto A, Gorgoglione D, Borin GU, Penzo M, Riguzzi P, Villa M, Vianello S, Calore C, Melacini P, Vio R, Barp A, D'Angelo G, Gandossini S, Politano L, Berardinelli A, Messina S, Vita GL, Pedemonte M, Bruno C, Albamonte E, Sansone V, Baranello G, Masson R, Astrea G, D'Amico A, Bertini E, Pane M, Lucibello S, Mercuri E, Spurney C, Clemens P, Morgenroth L, Gordish-Dressman H, McDonald CM, Hoffman EP; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Among authors: pedemonte m. J Neuromuscul Dis. 2024;11(2):285-297. doi: 10.3233/JND-230129. J Neuromuscul Dis. 2024. PMID: 38363615 Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ. Accogli A, et al. Among authors: pedemonte m. Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2. Nat Commun. 2024. PMID: 38191484 Free PMC article.
Early treatment of type II SMA slows rate of progression of scoliosis.
Coratti G, Lenkowicz J, Pera MC, D'Amico A, Bruno C, Gullì C, Brolatti N, Pedemonte M, Antonaci L, Ricci M, Capasso A, Cicala G, Cutrona C, de Sanctis R, Carnicella S, Forcina N, Cateruccia M, Damasio MB, Labianca L, Manfroni F, Leone A, Bertini E, Pane M, Patarnello S, Valentini V, Mercuri E. Coratti G, et al. Among authors: pedemonte m. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):235-240. doi: 10.1136/jnnp-2023-332084. J Neurol Neurosurg Psychiatry. 2024. PMID: 37739783
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F; JEWELFISH Study Group. Chiriboga CA, et al. Neurol Ther. 2023 Oct;12(5):1799-1801. doi: 10.1007/s40120-023-00503-7. Neurol Ther. 2023. PMID: 37395990 Free PMC article. No abstract available.
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Panicucci C, et al. Among authors: pedemonte m. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31. Neuropediatrics. 2023. PMID: 37257496 Free article. Review.
Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Pane M, Berti B, Capasso A, Coratti G, Varone A, D'Amico A, Messina S, Masson R, Sansone VA, Donati MA, Agosto C, Bruno C, Ricci F, Pini A, Gagliardi D, Filosto M, Corti S, Leone D, Palermo C, Onesimo R, De Sanctis R, Ricci M, Bitetti I, Sframeli M, Dosi C, Albamonte E, Ticci C, Brolatti N, Bertini E, Finkel R, Mercuri E; ITASMAc group. Pane M, et al. EClinicalMedicine. 2023 May 5;59:101997. doi: 10.1016/j.eclinm.2023.101997. eCollection 2023 May. EClinicalMedicine. 2023. PMID: 37197706 Free PMC article.
Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, Brolatti N, Mizzoni I, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Salmin F, De Sanctis R, Pera MC, Piastra M, Genovese O, Ricci F, Cavallina I, Masson R, Zanin R, Agosto C, Salomon E, Bruno I, Magnolato A, Bertini E, Tiziano FD, Bovis F, Mercuri E; Italian EAP Working Group. Pane M, et al. Among authors: pedemonte m. Eur J Neurol. 2023 Jun;30(6):1755-1763. doi: 10.1111/ene.15768. Epub 2023 Apr 3. Eur J Neurol. 2023. PMID: 36880698
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C. Racca F, et al. Among authors: pedemonte m. Acta Myol. 2022 Dec 31;41(4):135-177. doi: 10.36185/2532-1900-081. eCollection 2022. Acta Myol. 2022. PMID: 36793651 Free PMC article.
130 results