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332 results

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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: carnevale a. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility.
Khan D, Ramachandiran I, Vasu K, China A, Khan K, Cumbo F, Halawani D, Terenzi F, Zin I, Long B, Costain G, Blaser S, Carnevale A, Gogonea V, Dutta R, Blankenberg D, Yoon G, Fox PL. Khan D, et al. Among authors: carnevale a. Nat Commun. 2024 May 20;15(1):4284. doi: 10.1038/s41467-024-48549-x. Nat Commun. 2024. PMID: 38769304 Free PMC article.
Redefining migraine prevention: early treatment with anti-CGRP monoclonal antibodies enhances response in the real world.
Caronna E, Gallardo VJ, Egeo G, Vázquez MM, Castellanos CN, Membrilla JA, Vaghi G, Rodríguez-Montolio J, Fabregat Fabra N, Sánchez-Caballero F, Jaimes Sánchez A, Muñoz-Vendrell A, Oliveira R, Gárate G, González-Osorio Y, Guisado-Alonso D, Ornello R, Thunstedt C, Fernández-Lázaro I, Torres-Ferrús M, Alpuente A, Torelli P, Aurilia C, Pére RL, Castrillo MJR, Icco R, Sances G, Broadhurst S, Ong HC, García AG, Campoy S, Sanahuja J, Cabral G, Beltrán Blasco I, Waliszewska-Prosół M, Pereira L, Layos-Romero A, Luzeiro I, Dorado L, Álvarez Escudero MR, May A, López-Bravo A, Martins IP, Sundal C, Irimia P, Lozano Ros A, Gago-Veiga AB, Juanes FV, Ruscheweyh R, Sacco S, Cuadrado-Godia E, García-Azorín D, Pascual J, Gil-Gouveia R, Huerta-Villanueva M, Rodriguez-Vico J, Viguera Romero J, Obach V, Santos-Lasaosa S, Ghadiri-Sani M, Tassorelli C, Díaz-de-Terán J, Díaz Insa S, Oria CG, Barbanti P, Pozo-Rosich P; EUREkA study group. Caronna E, et al. J Neurol Neurosurg Psychiatry. 2024 May 22:jnnp-2023-333295. doi: 10.1136/jnnp-2023-333295. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 38777579
Correction to: Ultra-late response (> 24 weeks) to anti-CGRP monoclonal antibodies in migraine: a multicenter, prospective, observational study.
Barbanti P, Aurilia C, Egeo G, Proietti S, D'Onofrio F, Torelli P, Aguggia M, Bertuzzo D, Finocchi C, Trimboli M, Cevoli S, Fiorentini G, Orlando B, Zucco M, Di Clemente L, Cetta I, Colombo B, di Poggio MLB, Favoni V, Grazzi L, Salerno A, Carnevale A, Robotti M, Frediani F, Altamura C, Filippi M, Vernieri F, Bonassi S; Italian Migraine Registry study group. Barbanti P, et al. Among authors: carnevale a. J Neurol. 2024 May;271(5):2444-2445. doi: 10.1007/s00415-024-12287-3. J Neurol. 2024. PMID: 38564057 Free PMC article. No abstract available.
Assessing the Long-Term (48-Week) Effectiveness, Safety, and Tolerability of Fremanezumab in Migraine in Real Life: Insights from the Multicenter, Prospective, FRIEND3 Study.
Barbanti P, Egeo G, Proietti S, d'Onofrio F, Aurilia C, Finocchi C, Di Clemente L, Zucco M, Doretti A, Messina S, Autunno M, Ranieri A, Carnevale A, Colombo B, Filippi M, Tasillo M, Rinalduzzi S, Querzani P, Sette G, Forino L, Zoroddu F, Robotti M, Valenza A, Camarda C, Borrello L, Aguggia M, Viticchi G, Tomino C, Fiorentini G, Orlando B, Bonassi S, Torelli P; Italian Migraine Registry study group. Barbanti P, et al. Among authors: carnevale a. Neurol Ther. 2024 Mar 7. doi: 10.1007/s40120-024-00591-z. Online ahead of print. Neurol Ther. 2024. PMID: 38451463
Impact of multiple treatment cycles with anti-CGRP monoclonal antibodies on migraine course: focus on discontinuation periods. Insights from the multicenter, prospective, I-GRAINE study.
Barbanti P, Aurilia C, Egeo G, Proietti S, Torelli P, d'Onofrio F, Carnevale A, Tavani S, Orlando B, Fiorentini G, Colombo B, Filippi M, Bonassi S, Cevoli S; Italian Migraine Registry (I-GRAINE) study group. Barbanti P, et al. Among authors: carnevale a. J Neurol. 2024 May;271(5):2605-2614. doi: 10.1007/s00415-024-12192-9. Epub 2024 Feb 12. J Neurol. 2024. PMID: 38342785 Free PMC article.
332 results