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Did you mean bengoechea j (117 results)?
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: vengoechea je. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Sleyp Y, Valenzuela I, Accogli A, Ballon K, Ben-Zeev B, Berkovic SF, Broly M, Callaerts P, Caylor RC, Charles P, Chatron N, Cohen L, Coppola A, Cordeiro D, Cuccurullo C, Cuscó I, Janette diMonda, Duran-Romaña R, Ekhilevitch N, Fernández-Alvarez P, Gordon CT, Isidor B, Keren B, Lesca G, Maljaars J, Mercimek-Andrews S, Morrow MM, Muir AM; University of Washington Center for Mendelian Genomics; Rousseau F, Salpietro V, Scheffer IE, Schnur RE, Schymkowitz J, Souche E, Steyaert J, Stolerman ES, Vengoechea J, Ville D, Washington C, Weiss K, Zaid R, Sadleir LG, Mefford HC, Peeters H. Sleyp Y, et al. Among authors: vengoechea j. Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Genet Med. 2022. PMID: 36214804 Free article.
Procalcitonin and C-reactive protein to rule out early bacterial coinfection in COVID-19 critically ill patients.
Galli F, Bindo F, Motos A, Fernández-Barat L, Barbeta E, Gabarrús A, Ceccato A, Bermejo-Martin JF, Ferrer R, Riera J, Peñuelas O, Lorente JÁ, de Gonzalo-Calvo D, Menéndez R, Gonzalez J, Misuraca S, Palomeque A, Amaya-Villar R, Añón JM, Balan Mariño A, Barberà C, Barberán J, Blandino Ortiz A, Bustamante-Munguira E, Caballero J, Cantón-Bulnes ML, Carbajales Pérez C, Carbonell N, Catalán-González M, de Frutos R, Franco N, Galbán C, Lopez Lago A, Gumucio-Sanguino VD, de la Torre MDC, Díaz E, Estella Á, Gallego Curto E, García-Garmendia JL, Gómez JM, Huerta A, Jorge García RN, Loza-Vázquez A, Marin-Corral J, Martin Delgado MC, Martínez de la Gándara A, Martínez Varela I, Lopez Messa J, M Albaiceta G, Nieto MT, Novo MA, Peñasco Y, Pérez-García F, Pozo-Laderas JC, Ricart P, Sagredo V, Sánchez-Miralles A, Sancho Chinesta S, Roche-Campo F, Socias L, Solé-Violan J, Suarez-Sipmann F, Tamayo Lomas L, Trenado J, Úbeda A, Valdivia LJ, Vidal P, Boado MV, Rodríguez A, Antonelli M, Blasi F, Barbé F, Torres A; CIBERESUCICOVID Project investigators (COV20/00110, ISCIII). Galli F, et al. Intensive Care Med. 2023 Aug;49(8):934-945. doi: 10.1007/s00134-023-07161-1. Epub 2023 Jul 28. Intensive Care Med. 2023. PMID: 37507573 Free PMC article.
Personalized Medicine: Monogenic Diabetes.
Goulden PA, Vengoechea J, McKelvey K. Goulden PA, et al. Among authors: vengoechea j. J Ark Med Soc. 2015 Sep;112(5):58-9. J Ark Med Soc. 2015. PMID: 26390534 Review.
One-year mortality after ICU admission due to COVID-19 infection.
Ceccato A, Pérez-Arnal R, Motos A, Barbé F, Torres A; CiberesUCICOVID Consortium. Ceccato A, et al. Intensive Care Med. 2022 Mar;48(3):366-368. doi: 10.1007/s00134-021-06611-y. Epub 2022 Jan 18. Intensive Care Med. 2022. PMID: 35041016 Free PMC article. No abstract available.
Key Factors Associated With Pulmonary Sequelae in the Follow-Up of Critically Ill COVID-19 Patients.
González J, de Batlle J, Benítez ID, Torres G, Santisteve S, Targa ADS, Gort-Paniello C, Moncusí-Moix A, Aguilà M, Seck F, Ceccato A, Ferrer R, Motos A, Riera J, Fernández L, Menéndez R, Lorente JÁ, Peñuelas O, Garcia-Gasulla D, Peñasco Y, Ricart P, Abril Palomares E, Aguilera L, Rodríguez A, Boado Varela MV, Beteré B, Pozo-Laderas JC, Solé-Violan J, Salvador-Adell I, Novo MA, Barberán J, Amaya Villar R, Garnacho-Montero J, Gómez JM, Blandino Ortiz A, Tamayo Lomas L, Úbeda A, Catalán-González M, Sánchez-Miralles A, Martínez Varela I, Jorge García RN, Franco N, Gumucio-Sanguino VD, Bustamante-Munguira E, Valdivia LJ, Caballero J, Gallego E, Rodríguez C, Castellanos-Ortega Á, Trenado J, Marin-Corral J, Albaiceta GM, de la Torre MDC, Loza-Vázquez A, Vidal P, Añón JM, Carbajales Pérez C, Sagredo V, Carbonell N, Socias L, Barberà C, Estella A, Diaz E, de Gonzalo-Calvo D, Torres A, Barbé F; CIBERESUCICOVID Project. González J, et al. Arch Bronconeumol. 2023 Apr;59(4):205-215. doi: 10.1016/j.arbres.2022.12.017. Epub 2023 Jan 7. Arch Bronconeumol. 2023. PMID: 36690515 Free PMC article.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: vengoechea j. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
49 results