Natalia Alexandra Julià Palacios
Investigador pre-doc
Professional network profiles
Last Publications
- Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study. BRAIN . : .
- 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, Pandey UB, 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 . : .
- Tokatly Latzer I, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants HUMAN GENETICS . 142(12): 1755-1776.
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.