Juan Darío Ortigoza Escobar
Investigador
Research group
Last Publications
- Dini M, Maida E, Lavorgna L, Buizer A, Fanciulli A, Medijainen K, Nonnekes J, Ortigoza-Escobar JD, Salamon A, Timmann D, Vinciguerra C, Zádori D and Leocani L Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review JOURNAL OF NEUROLOGY . 273(7): .
- Wang M, Helal S, Torabi-Marashi A, Goodman S, Kallurkar P, Truong TK, Mizrahi-Powell E, Evrony GD, Chacon-Fonseca I, Valenzuela Palafoll I, Kannu P, Piton A, Chitayat D, Boerkoel CF, Mendoza-Londono R, Ortigoza-Escobar JD, Kwint M, Rots D, Kleefstra T, Wojcik MH, Scherer SW, Hon-Yin Chung B, Ko JM, Bjornsson HT, Harris JR, Choufani S and Weksberg R A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine AMERICAN JOURNAL OF HUMAN GENETICS . 113(6): 1233-1252.
- 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.
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.
