MªDel Mar O'callaghan Gordo
Investigador
Professional network profiles
Last Publications
- Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission JOURNAL OF INHERITED METABOLIC DISEASE . : .
- Stanescu S, Correcher Medina P, Del Castillo FJ, Alonso Luengo O, Arto Millan LM, Belanger Quintana A, Camprodon Gomez M, Diez Langhetée L, Garcia Campos O, Matas Garcia A, Perez-Moreno J, Rubio Gribble B, Visa-Reñé N, Giraldo-Castellano P and O'Callaghan-Gordo M Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study. Biomedicines . 11(10): .
- Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F Leigh syndrome is the main clinical characteristic of PTCD3 deficiency BRAIN PATHOLOGY . 33(3): .
Projects
- Project name:
- Estudio de pacientes dentro del Espectro Rett mediante un enfoque multiómico integrativo: delucidar la huella molecular de la via funcional.
- Leader
- Judith Silvia Armstrong Morón
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI20/00389
- Starting - finishing date:
- 2021 - 2024
- Project name:
- Secuenciación de exoma para el diagnóstico de pacientes con enfermedades mitocondriales: investigación de aspectos fisiopatológicos y terapéuticos de las deficiencias de conezima Q10.
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI20/00340
- Starting - finishing date:
- 2021 - 2023
- Project name:
- Diagnóstico molecular de los defectos de la fosforización oxidativa mitocondrial: patogénesis de las deficiencias de CoQ10
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI17/00109
- Starting - finishing date:
- 2018 - 2021
News
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Experts in nanomedicine come together to tackle rare diseases
The fourth edition of the "Nanorare Disease Day" event was held on February 28th, in collaboration between the Institut de Recerca Sant Joan de Déu de Barcelona and NanomedSpain, on World Rare Disease Day.