Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Cokolic Petrovic D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA and Ortigoza-Escobar JD Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles ANNALS OF NEUROLOGY . : .
- Ramón-Gómez JL, de Felipe M, Balsells S, Martínez-Segura A, Ruiz C and Ortigoza-Escobar JD Management of Movement Disorders in Chronic Neurological Conditions and Palliative Care: A Retrospective Cohort Study. PEDIATRIC NEUROLOGY . 179: 54-62.
- Monteiro B, Peixoto MI, Ortigoza-Escobar JD, Alves M, Sandiares AC, Gonçalves M, Moreira LV, Coutinho MF, Matos L, Alves S and Encarnação M ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene Genes . 17(3): .
Projects
- Project name:
- GNAO1-EU: European Natural History Study and search for novel biomarkers in GNAO1-associated disorders
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Asociación GNAO1 España
- Code
- PFNR0235
- Starting - finishing date:
- 2026 - 2027
- Project name:
- Proyecto de Investigación Diagnóstico: Volumetría cerebral longitudinal en trastornos relacionados con GNA01: correlaciones con fenotipos clínicos.
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Federación Española de Enfermedades Raras
- Code
- AI-2024-036-IX CAI FF
- Starting - finishing date:
- 2025 - 2026
- Project name:
- Comprehensive analysis of clinical and transcriptomic data (liquid biopsy) to identify biomarkers in patients with GNAO1-related disorders
- Leader
- Juan Darío Ortigoza Escobar
- Funding entities:
- Famiglie GNAO1
- Code
- PFE00142
- Starting - finishing date:
- 2024 - 2025
News
-
An international study led by Sant Joan de Déu confirms that GNAO1-RD disease is not degenerative
The study describes for the first time the long-term evolution of disorders related to the GNAO1 gene.
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An international study improves clinical prediction in genetic disorders related to NKX2-1
NKX2-1-related disorders are genetic diseases caused by alterations in the NKX2-1 gene. This gene is essential for the development of the brain, lungs, and thyroid gland.
