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Page 1
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Tawil R, et al. Among authors: reyes leiva d. Lancet Neurol. 2024 May;23(5):477-486. doi: 10.1016/S1474-4422(24)00073-5. Lancet Neurol. 2024. PMID: 38631764 Clinical Trial.
Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravis.
Martínez-Martínez L, Lacruz AC, Querol L, Cortés-Vicente E, Pascual E, Rojas-García R, Reyes-Leiva D, Álvaro Y, Moltó E, Ortiz E, Gallardo E, Juárez C, Mariscal A; 2022 GEAI-S. E. I. Workshop participants. Martínez-Martínez L, et al. Among authors: reyes leiva d. J Neurol. 2024 Jul;271(7):4119-4130. doi: 10.1007/s00415-024-12317-0. Epub 2024 Apr 5. J Neurol. 2024. PMID: 38578496
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.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: reyes leiva d. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Kishnani PS, et al. JAMA Neurol. 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. JAMA Neurol. 2023. PMID: 37036722 Free PMC article. Clinical Trial.
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Álvarez-Velasco R, Dols-Icardo O, El Bounasri S, López-Vilaró L, Trujillo JC, Reyes-Leiva D, Suárez-Calvet X, Cortés-Vicente E, Illa I, Gallardo E. Álvarez-Velasco R, et al. Among authors: reyes leiva d. Neurol Neuroimmunol Neuroinflamm. 2023 Jan 25;10(2):e200085. doi: 10.1212/NXI.0000000000200085. Print 2023 Mar. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 36697230 Free PMC article.
Neuroinflammation-Related Proteins NOD2 and Spp1 Are Abnormally Upregulated in Amyotrophic Lateral Sclerosis.
de Luna N, Carbayo Á, Dols-Icardo O, Turon-Sans J, Reyes-Leiva D, Illan-Gala I, Jericó I, Pagola-Lorz I, Lleixà C, Querol L, Rubio-Guerra S, Alcolea D, Fortea J, Lleó A, Cortés-Vicente E, Rojas-Garcia R. de Luna N, et al. Among authors: reyes leiva d. Neurol Neuroimmunol Neuroinflamm. 2022 Dec 2;10(2):e200072. doi: 10.1212/NXI.0000000000200072. Print 2023 Mar. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 36460480 Free PMC article.
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos F, Ochoa JP, Gómez-González C, Reyes-Leiva D, Aróstegui JI, Casasnovas C, Barriales-Villa R, Sevilla T, Gonzalez-Lopez E, Ramil E, Galan L, González-Costello J, García-Álvarez A, Rojas-Garcia R, Espinosa MA, Garcia-Pavia P. de Frutos F, et al. Among authors: reyes leiva d. Amyloid. 2023 Jun;30(2):199-207. doi: 10.1080/13506129.2022.2142110. Epub 2022 Nov 7. Amyloid. 2023. PMID: 36343383
Azathioprine therapy induces selective NK cell depletion and IFN-γ deficiency predisposing to herpesvirus reactivation.
Ingelfinger F, Sparano C, Bamert D, Reyes-Leiva D, Sethi A, Rindlisbacher L, Zwicky P, Kreutmair S, Widmer CC, Mundt S, Cortés-Vicente E, Tugues S, Becher B, Schreiner B. Ingelfinger F, et al. Among authors: reyes leiva d. J Allergy Clin Immunol. 2023 Jan;151(1):280-286.e2. doi: 10.1016/j.jaci.2022.09.010. Epub 2022 Sep 16. J Allergy Clin Immunol. 2023. PMID: 36122787 Free article.
23 results