Natalia Alexandra Julià Palacios
Investigador pre-doc
Professional network profiles
Last Publications
- Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, Garcia-Cazorla A, Gijavanekar C, Gümüs EY, Hamad MH, Hismi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Julià-Palacios NA, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J and Blau N Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. MOLECULAR GENETICS AND METABOLISM . 139(3): 107624-107624.
- Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou-Munoz C, Julià-Palacios NA, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, Garcia-Cazorla A, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E and Pujol A Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity. JOURNAL OF CLINICAL INVESTIGATION . 133(10): .
- Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J and Garcia-Cazorla A Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders. Neuroradiology . 64(11): 2179-2190.
Projects
- 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 - 2023
- Project name:
- Medicina personalizada en los defectos genéticos de la neurotransmisión en pediatría. Nuevo enfoque basado en el metabolismo de la sinapsis neuronal
- Leader
- MªAngels García Cazorla
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- PI18/00111
- Starting - finishing date:
- 2019 - 2022
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.