Natalia Alexandra Julià Palacios
Investigador pre-doc
Professional network profiles
Last Publications
- Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission. JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): .
- Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051.
- Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication CLINICAL CHEMISTRY . 70(12): 1443-1451.
Projects
- Project name:
- Modelos experimentales de sinaptopatías aplicados a la medicina personalizada de trastornos genéticos raros de la comunicación neuronal neuropediátricos
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI24/00469
- Starting - finishing date:
- 2024 - 2027
- Project name:
- Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso
- Leader
- Rafael Artuch Iriberri
- Funding entities:
- Artuch Iriberri, Rafael, Instituto de Salud Carlos III (ISCIII)
- Code
- PI23/00006
- Starting - finishing date:
- 2024 - 2026
- Project name:
- Development of leriglitazone for Rett Syndrome and related disorders
- Leader
- MªAngels García Cazorla, Alfonso Luis De Oyarzabal Sanz
- Funding entities:
- Ministerio De Ciencia E Innovacion
- Code
- CPP2021-008554
- Starting - finishing date:
- 2022 - 2025
News
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New tool to predict severity in Nonketotic Hyperglycinemia, a rare disease
An international team led by Dr Àngels García Cazorla, a researcher at the Institut de Recerca Sant Joan de Déu and a pediatric neurologist at the SJD Barcelona Children’s Hospital, has presented a new approach to nonketotic hyperglycinemia that can predict the severity in affected children. The study was published in the journal Annals of Neurology.
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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.