Mercedes Serrano Gimaré
Investigador
Research group
Professional network profiles
Last Publications
- Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy Frontiers in Cell and Developmental Biology . 12: .
- Epifani F, Pujol Serra SM, Llorens M, Balsells S, Nolasco-Tovar GA, Bolasell M, SERGIO AGUILERA ALBESA, 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 and Serrano M Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study SCIENTIFIC REPORTS . 13(1): 22783-22783.
- Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(18): .
Projects
- Project name:
- Contratos predoctorales de formación en investigación en salud_Beneficiari: Florencia Epifani
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI22/00218
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Early Treatment for children with mental health problems and Genetic Abnormalities through a Parenting intervention (The GAP): a pragmatic randomized controlled trial
- Leader
- Laia Villalta Maciá
- Funding entities:
- Fundació La Marató de TV3, Villalta Maciá, Laia
- Code
- 202236-10
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Innovative Medicines Initiative 2 Joint EU: Autism Innovative Medicine Studies – 2 – Trials’ —‘AIMS-2-TRIALS’
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- King's College London
- Code
- 777394
- Starting - finishing date:
- 2023 - 2025
News
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.
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Professionals at Sant Joan de Déu make it easier for doctors around the world to diagnose a rare disease
They analysed the most remarkable traits of children suffering from PMM2-CDG and designed an app that uses a photograph of the patient's face to suggest a diagnosis.