Fundación Ramón Areces - Memoria anual
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From march 2, 2017 until march 2, 2020.
Investigation project | Senior Researcher | Research Centre | |
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The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application | Ángeles Almeida Parra | Instituto de Investigación Biomédica de Salamanca (IBSAL) |
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A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing | Carmen Ayuso García | Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid |
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Systemic analysis of the gene regulatory networks involved in the specification and maintenance of the retinal pigment epithelium: towards new therapies for retinal degenerative diseases | Paola Bovolenta Nicolao | Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid |
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Dyskeratosis congenita. New models, New molecular keys and New treatments | María Luisa Cayuela Fuentes | Instituto de Investigación Biosanitaria-IMIB. Instituto Murciano de Investigaciones Biosanitarias-Arrixaca. |
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Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-) | César Cobaleda Hernández | Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid. |
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Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease | José Jesús Fernández Rodríguez | Centro Nacional de Biotecnología. CSIC. Madrid |
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Modeling of familial cerebral cavernous malformation through cellular reprogramming | Miguel Ángel Fidalgo Pérez | Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela |
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Phosphodiesterase inhibitors as Friedreich's ataxia treatment | Pilar González Cabo | Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valencia |
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Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets | Noemí de Luna Salvà | Laboratorio de Enfermedades Neuromusculares. Hospital de la Santa Creu i Sant Pau. CIBER (Centro de Investigación Biomédica en Red). Barcelona |
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The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper) | Francesc Palau Martínez | Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona |
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Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias | María del Carmen Sánchez Fernández | Universidad Internacional de Cataluña UIC |
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Astrocytes: new anti-epileptic targets in Lafora disease | Pascual Felipe Sanz Bigorra | Instituto de Biomedicina de Valencia. CSIC y Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) |
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AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies | Jorgina Satrústegui Gil-Delgado | Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid |
Investigation project | Senior Researcher | Research Centre | |
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Effect of mutations in the glucocerebrosidase-1 gene on iPS cell-derived neurons from Parkinson´s disease patients. Rescue of the phenotype and cell transplantation | Carlos Vicario Abejón | Instituto Cajal. CSIC. Madrid |
Investigation project | Senior Researcher | Research Centre | |
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Regeneration as a model to identify molecular mechanisms involved in cellular reprogramming | Antonio Baonza Cuenca | Centro de Biología Molecular Severo Ochoa. CSIC-UAM. Madrid |
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Role of Purinergic signaling in human cortical development. A cerebral organoid-based approach | María Teresa Miras-Portugal | Departamento de Bioquímica y Biología Molecular, Facultad de Veterinaria, Universidad Complutense de Madrid. Madrid |
Investigation project | Senior Researcher | Research Centre | |
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Graphene: macrophage biomaterials: functional characterization for the use in cardiovascular pathologies | Lisardo Boscá Gomar | Instituto de Investigaciones Biomédicas Alberto Sols. CSIC-UAM. Madrid |
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Controlling the magnetism and electronic transport of graphene samples at the atomic scale | Iván Brihuega Álvarez | Universidad Autónoma de Madrid |
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Graphene-based flexible neural interfaces for the peripheral nervous system | José Antonio Garrido Ariza | Instituto Catalán de Nanociencia y Nanotecnología. Bellaterra, Barcelona |
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