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Page 1
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R. Palma-Milla C, et al. Among authors: balcells s. Pediatr Neurol. 2024 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print. Pediatr Neurol. 2024. PMID: 38569228
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M. Epifani F, et al. Among authors: balcells s. Sci Rep. 2023 Dec 20;13(1):22783. doi: 10.1038/s41598-023-49518-y. Sci Rep. 2023. PMID: 38129426 Free PMC article.
Association of Time of Day With Outcomes Among Patients Triaged for a Suspected Severe Stroke in Nonurban Catalonia.
García-Tornel Á, Flores A, Terceño M, Cardona P, Amaro S, Gomis M, Zaragoza J, Krupinski J, Gómez-Choco M, Mas N, Cocho D, Catena E, Purroy F, Deck M, Rubiera M, Pagola J, Rodriguez-Luna D, Juega J, Rodríguez-Villatoro N, Molina CA, Soro C, Jimenez X, Salvat-Plana M, Dávalos A, Jovin TG, Abilleira S, Pérez de la Ossa N, Ribó M; RACECAT Trial Investigators. García-Tornel Á, et al. Stroke. 2023 Mar;54(3):770-780. doi: 10.1161/STROKEAHA.122.041013. Epub 2023 Feb 27. Stroke. 2023. PMID: 36848432
Workflows and Outcomes in Patients With Suspected Large Vessel Occlusion Stroke Triaged in Urban and Nonurban Areas.
Garcia-Tornel A, Millan M, Rubiera M, Bustamante A, Requena M, Dorado L, Olivé-Gadea M, Jiménez X, Soto A, Querol M, Hernández-Pérez M, Gomis M, Cardona P, Urra X, Purroy F, Silva Y, Ustrell X, Esteve P, Salvat-Plana M, Gallofré M, Molina C, Dávalos A, Jovin T, Abilleira S, Ribo M, Pérez de la Ossa N; RACECAT Trial Investigators. Garcia-Tornel A, et al. Stroke. 2022 Dec;53(12):3728-3740. doi: 10.1161/STROKEAHA.122.040768. Epub 2022 Oct 19. Stroke. 2022. PMID: 36259411
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martínez-Cabrera R, Prat-Planas A, Rojano E, Ranea JAG, Seoane P, Oliva C, Paredes-Fuentes AJ, Marfany G, Artuch R, Grinberg D, Rabionet R, Balcells S, Urreizti R. Castilla-Vallmanya L, et al. Among authors: balcells s. J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7. J Med Genet. 2023. PMID: 36243518 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.
CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts.
López-Márquez A, Morín M, Fernández-Peñalver S, Badosa C, Hernández-Delgado A, Natera-de Benito D, Ortez C, Nascimento A, Grinberg D, Balcells S, Roldán M, Moreno-Pelayo MÁ, Jiménez-Mallebrera C. López-Márquez A, et al. Among authors: balcells s. Int J Mol Sci. 2022 Apr 16;23(8):4410. doi: 10.3390/ijms23084410. Int J Mol Sci. 2022. PMID: 35457228 Free PMC article.
115 results