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KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.
González-Garrido A, López-Ramírez O, Cerda-Mireles A, Navarrete-Miranda T, Flores-Arenas AI, Rojo-Domínguez A, Arregui L, Iturralde P, Antúnez-Argüelles E, Domínguez-Pérez M, Jacobo-Albavera L, Carnevale A, Villarreal-Molina T. González-Garrido A, et al. Among authors: carnevale a. Int J Mol Sci. 2024 Jan 12;25(2):953. doi: 10.3390/ijms25020953. Int J Mol Sci. 2024. PMID: 38256028 Free PMC article.
Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys).
González-Garrido A, Rosas-Madrigal S, Rojo-Domínguez A, Arellanes-Robledo J, López-Mora E, Carnevale A, Arregui L, Rosendo-Gutiérrez R, Romero-Hidalgo S, Villarreal-Molina MT. González-Garrido A, et al. Among authors: carnevale a. Int J Mol Sci. 2022 Nov 7;23(21):13626. doi: 10.3390/ijms232113626. Int J Mol Sci. 2022. PMID: 36362411 Free PMC article.
Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Sánchez S, Juárez U, Domínguez J, Molina B, Barrientos R, Martínez-Hernández A, Carnevale A, Grether-González P, Mayen DG, Villarroel C, Lieberman E, Yokoyama E, Del Castillo V, Torres L, Frias S. Sánchez S, et al. Among authors: carnevale a. Mol Cytogenet. 2023 Jan 12;16(1):2. doi: 10.1186/s13039-022-00631-z. Mol Cytogenet. 2023. PMID: 36631885 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
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.
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 Jun;13(3):611-624. doi: 10.1007/s40120-024-00591-z. Epub 2024 Mar 7. Neurol Ther. 2024. PMID: 38451463 Free PMC article.
332 results