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Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy.
Esmel-Vilomara R, Dougherty-De Miguel L, Artigas-Baleri A, Turón-Viñas E, Cuscó I, Díaz-Gómez A, Panadés-De Oliveira L, Rocamora R, Boronat S. Esmel-Vilomara R, et al. Among authors: boronat s. Eur J Med Genet. 2024 Oct;71:104965. doi: 10.1016/j.ejmg.2024.104965. Epub 2024 Jul 31. Eur J Med Genet. 2024. PMID: 39094681 Free article.
Long-term Efficacy of Perampanel in a Child with Dravet Syndrome.
Turón-Viñas E, Díaz-Gómez A, Coca E, Dougherty L, Ruiz C, Boronat S. Turón-Viñas E, et al. Among authors: boronat s. Child Neurol Open. 2021 Oct 20;8:2329048X211050711. doi: 10.1177/2329048X211050711. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34692895 Free PMC article.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: boronat s. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
Seizures in children undergoing stem cell transplantation.
Turón-Viñas E, López-Torija I, Coca-Fernández E, Badell I, Sierra-Marcos A, Turón M, Ribosa-Nogué R, Boronat S. Turón-Viñas E, et al. Among authors: boronat s. Pediatr Transplant. 2024 Feb;28(1):e14619. doi: 10.1111/petr.14619. Epub 2023 Oct 6. Pediatr Transplant. 2024. PMID: 37803946
82 results