Natalia Alexandra Julià Palacios
Investigador pre-doc
Professional network profiles
Last Publications
- Julià-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortés-Saladelafont E, Rovira-Remisa MM, Yildiz Y, Mercimek-Andrews S, Assmann B, Stevanovic G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, Garcia-Cazorla A and Opladen T The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 447-462.
- 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 . 47(3): 551-569.
- Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julià-Palacios NA, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB and Pearl PL Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. MOLECULAR GENETICS AND METABOLISM . 142(1): 108363-108363.
Projects
- 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
- Project name:
- Escala GRIN
- Leader
- MªAngels García Cazorla
- Funding entities:
- Clientes Diversos
- Code
- PFNR0154
- Starting - finishing date:
- 2021 - 2024
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.