Uliana Musokhranova Matveeva
Investigador pre-doc
Professional network profiles
Last Publications
- Illescas S, Díaz-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.
- Musokhranova U, Grau-Páez C, Vergara C, Rodríguez-Pascau L, Xiol-Viñas C, Castells AA, Alcántara S, Rodríguez-Pombo P, Pizcueta P, Martinell M, Garcia-Cazorla A and De Oyarzabal-Sanz AL Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome JOURNAL OF TRANSLATIONAL MEDICINE . 21(1): 756-756.
- Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Dominguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant JOURNAL OF MEDICAL GENETICS . 60(10): 965-973.
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:
- Subvencions per a la contractació de personal investigador en formació (PIF-Salut). Beneficiari: Uliana Musokhranova
- Leader
- MªAngels García Cazorla
- Funding entities:
- Generalitat de Catalunya
- Code
- SLT017/20/000199
- Starting - finishing date:
- 2021 - 2024
- Project name:
- U-IMD_Unified European Registry for Inherited Metabolic Disorders GA Nº 777259
- Leader
- MªAngels García Cazorla
- Funding entities:
- European Commission
- Code
- 777259
- Starting - finishing date:
- 2018 - 2021
News
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Nanomedicine to tackle rare diseases
Experts in nanomedicine from various fields have gathered today for the fifth consecutive year at Nano Rare Diseases Day. This event is co-organized by IRSJD and the NANOMED Spain platform, coordinated by IBEC.
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Advances in Research on Rett Syndrome
A study conducted by the Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies Group at IRSJD · SJD Barcelona Children's Hospital confirms mitochondrial dysfunction in two distinct models of Rett syndrome, highlighting the significance of distinguishing between brain regions and stages of the disease. The findings of this study open up new avenues for treatment development.
More activities
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Pint of Science |El metabolismo de un cerebro en desarrollo
La Iguana, Carrer de Rosés, 46 08028, Barcelona