Juliana Ribeiro Constante
Investigador pre-doc
Professional network profiles
Last Publications
- Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, Garcia-Cazorla A, Gómez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M and Mochel F Use of Brain MRI in Cerebral Adrenoleukodystrophy NEUROLOGY . 106(5): .
- Aranda S, Ribeiro J, Tristán-Noguero A, Moreno-Ruiz N, Arenas C, Calvo FFM, Ibañez-Mico S, Segura JLP, Ramos-Fernández JM, Del Carmen Moyano Chicano M, León RC, Soto-Insuga V, González-Alguacil E, Carlos Valera Dávila, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Del Pilar Martin-Tamayo Blázquez M, Paredes-Carmona F, Marti-Carrera I, Ginot-Julià G, Hernández-Fabián A, Davi MT, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan-Gordo M, Iglesias Santa Polonia FF, Cazorla MR, Lucas MTF, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Anna M, Cueto-González, Párraga FV, Campistol-Plana J, Serrano M, Xenia Alonso, Palafoll MIV, Monteagudo E, Alonso-Colmenero I, Sans-Capdevila O, Casals F, Cormand B, Garcia-Cazorla A, Bayés À and Mitjans M Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy. NEUROBIOLOGY OF DISEASE . : 107357-107357.
- Garcia-Cazorla A, Sevin C, Ribeiro J, Yazbeck E, Rosewich H, Jimenez S, Chia-Yi Chiang G, Rapalino O, Caruso P, Balentine D, Helmer KG, Bennett S, Emanuele M, Rodriguez-Pascau L, Pizcueta P, Pina G, Vilà A, Rovira M, Mantilla A, Meya U, Mistry A, Pascual M, Pascual S, Martinell M, Musolino PL and Mallack E Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial EClinicalMedicine . 84: 103265-103265.
Projects
- Project name:
- SYNGAP1: Registro nacional de pacientes Syngap1e y creación de una plataforma para estudios clínicos y basicos
- Leader
- MªAngels García Cazorla
- Funding entities:
- Asociación SYNGAP1 España
- Code
- PFNR0148
- Starting - finishing date:
- 2020 - 3000
News
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An early diagnosis and some diet changes can decrease the risk of severe symptoms in children with BCKDK metabolic deficiency
The research, under the leadership of Dr. Àngels García-Cazorla at the Institut de Recerca Sant Joan de Déu, has demonstrated that early identification of this disease is possible through the standard neonatal screening test, also known as the heel prick test.
