Francesc Palau Martínez
Jefe de Grupo Senior
Research group
Professional network profiles
Related websites
SJD Barcelona Children's Hospital Last Publications
- Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment EUROPEAN JOURNAL OF HUMAN GENETICS . : .
- Lorenzo D, Esquerda-Areste M, Bofarull M, Cusi V, Roig H, Bertran J, Carrera J, Torralba F, Cambra-Lasaosa FJ, Vila M, Garriga M and Palau F The reuse of genetic information in research and informed consent EUROPEAN JOURNAL OF HUMAN GENETICS . 31(12): 1393-1397.
- Ferri-Rufete D, López A, Casas-Alba D, Cuadras-Palleja D, Palau F and Martinez-Monseny T Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions EUROPEAN JOURNAL OF MEDICAL GENETICS . 66(11): 104858-104858.
Projects
- Project name:
- BETTER_Better rEal-world healTh-daTa distributEd analytics Research platform
- Leader
- Francesc Palau Martínez
- Funding entities:
- European Commission
- Code
- 101136262
- Starting - finishing date:
- 2023 - 2027
- Project name:
- The clinical brain of coffin-siris syndrome: comprehensive approach to a neurodevelopmental disorder
- Leader
- Francesc Palau Martínez
- Funding entities:
- ASOCIACIÓN ESPAÑOLA COFFIN-SIRIS
- Code
- PFNR0183
- Starting - finishing date:
- 2023 - 2024
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025
News
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Mitochondria-lysosome contacts: a new cell phenotype in neurogenetic diseases
The Neurogenetics and Molecular Medicine research group of the Institut de Recerca Sant Joan de Déu (IRSJD), in collaboration with the Neuromuscular Pathology Unit of the SJD Barcelona Children's Hospital (HSJD), has studied the pathophysiology of mitochondrial dynamics and mitochondrial- lysosome contacts in cells from patients with neurogenetic diseases. The article has been published in the journal Frontiers in Neuroscience.
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First scientific conference on nanotechnology and rare diseases
The Spanish nanomedicine platform (Nanomed Spain), together with the Sant Joan de Déu Research Institute and the IBEC (Institute of Bioengineering of Catalonia), organised an event within the framework of the Rare Disease Day at which they presented the latest innovations in the field of nanomedicine for the treatment and diagnosis of these diseases.