MªAngels García Cazorla
Jefe de Grupo Senior
SJD Barcelona Children's Hospital Last Publications
- Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch-Iriberri R, Gallano P, Garrabou G, González JR, Grinberg-Vaisman DR, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA and Beltran S Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. JOURNAL OF MOLECULAR DIAGNOSTICS . 24(5): 529-542.
- Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS . 101(5-6): 481-493.
- Casas-Alba D, Darling A, Caballero E, Mensa-Vilaró A, Bartrons J, Anton-Lopez J, Garcia-Cazorla A, Vanderver A and Armangue-Salvador T Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome. Rheumatology . 61(4): 87-89.
Projects
- Project name:
- Sinapsis en un chip: medicina personalizada en trastornos genéticos del neurodesarrollo que afectan a la comunicación sináptica
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI21/00073
- Starting - finishing date:
- 2022 - 2024
- Project name:
- Subvencions per a la contractació de personal investigador en formació (PIF-Salut). Beneficiari: Uliana Musokhranova
- Leader
- MªAngels García Cazorla
- Funding entities:
- Departament de Salut - Generalitat de Catalunya
- Code
- SLT017/20/000199
- Starting - finishing date:
- 2021 - 2024
- Project name:
- Teràpies personalitzades pels trastorns cognitiu-conductuals de les malalties hereditàries del metabolisme en l'edat pediàtrica
- Leader
- MªAngels García Cazorla
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2020 DI 103
- Starting - finishing date:
- 2021 - 2024
News
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Supplementation with dopamine and serotonin precursors could have neuroprotective effects in children with early-onset epilepsy
A team of researchers at the Institut de Recerca Sant Joan de Déu shows that supplementation with neurotransmitters such as dopamine and serotonin could protect the brains of children under the age of 3 with early-onset epilepsy. The article was published in the scientific journal Developmental Medicine & Child Neurology.
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Researchers discover new phenotypic characteristics in inherited disorders of neurotransmitter metabolism
The study co-led by Dr Àngels Garcia-Cazorla, Institut de Recerca Sant Joan de Déu (IRSJD), has studied more than 270 patients with ultra-rare neuro-metabolic diseases to describe and evaluate their initial clinical and biochemical characteristics improve their diagnosis.
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Researchers discover a new genetic disease of the nervous and cardiac systems
The study, led by Dra. Àngels Garcia-Cazorla (Institut de Recerca Sant Joan de Déu), and scientists from IRSJD, IDIBELL and CIBERER, is published in the prestigious journal 'Acta Neuropathologica'.