Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Nou-Fontanet L, Ravelli C, Burglen L, Balsells S, Valls-Villalba A, Schiffels ER, Innocenti A, Villafuerte B, Salazar-Villacorta A, Quiroz V, Sariego Jamardo A, Bonato G, Díaz-Gomez A, Afenjar A, Vilain C, da Silva Möller PD, Garcia-Navas Nuñez D, Krygier M, Molnar MJ, Milanowski L, Õunap K, Pauni M, Vega P, Borie R, Villamil-Osorio M, Yilmaz S, Zádori D, Zawadzka M, Barakat TS, Neuens S, Natera-de Benito D, Casas-Alba D, Soliani L, de Gusmao CM, Garone G, Specchio N, Carecchio M, Moreno JC, Magrinelli F, Bhatia KP, Ebrahimi-Fakhari D, Castiglioni C, Kurian MA, Carvalho JN, Pons R, Roze E, Doummar D and Ortigoza-Escobar JD International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives MOVEMENT DISORDERS . 41(4): 889-900.
- Ludlam WG, Domínguez-Carral J, Schteinschnaider A, Martemyanov KA and Ortigoza-Escobar JD Novel GNAO1 variant in a-helical domain reveals alternative mechanism of disease. Genes & Diseases . 13(2): 101714-101714.
- 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.
