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The effect of antitumour penetrating peptides based on connexin-43 in the selective metabolic reprogramming of human glyoma stem cells
2014
Investigador Principal: Aránzazu Tabernero Urbieta
Centro de investigación o Institución: Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.
más información
sobre The effect of antitumour penetrating peptides based on connexin-43 in the selective metabolic reprogramming of human glyoma stem cells
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Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
2020
Investigador Principal: Vicente Rubio Zamora
Centro de investigación o Institución: Instituto de Biomedicina de Valencia. CSIC.
más información
sobre Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
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Phenotyping of animal models of rare diseases with visual disability
2020
Senior Researcher : Lluís Montoliu José
Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
more information
on Phenotyping of animal models of rare diseases with visual disability
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Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype
2020
Senior Researcher : Eva María Richard Rodríguez
Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
more information
on Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype
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Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation
2020
Senior Researcher : Pedro Redondo Bellón
Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
more information
on Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation
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The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development
2020
Senior Researcher : Beatriz López Corcuera
Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
more information
on The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development
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Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A
2018
Investigador Principal: Marc Güell Cargol
Centro de investigación o Institución: Universidad Pompeu Fabra. Barcelona
más información
sobre Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A
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Artificial intelligence and machine learning in human diseases
2018
Investigador Principal: Pablo Lapunzina Badía
Centro de investigación o Institución: INGEMM-Hospital Universitario La Paz-CIBERER. Madrid
más información
sobre Artificial intelligence and machine learning in human diseases
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Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
2018
Investigador Principal: Juan Pedro Bolaños Hernández
Centro de investigación o Institución: Instituto de Biología Funcional y Genómica, Universidad de Salamanca-CSIC
más información
sobre Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
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Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
2018
Investigador Principal: Cristina Fillat Fonts
Centro de investigación o Institución: Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.
más información
sobre Gene therapy to correct glutaric aciduria type 1 in Gcdh -1- mice
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Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
2018
Investigador Principal: Juan Viña Ribes
Centro de investigación o Institución: Universidad de Valencia.
más información
sobre Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
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Molecular mechanisms underlying Zic2-associated holoprosencephaly
2018
Investigador Principal: Eloisa Herrera González de Molina
Centro de investigación o Institución: Instituto de Neurociencias. CSIC-Universidad Miguel Hernández. Alicante.
más información
sobre Molecular mechanisms underlying Zic2-associated holoprosencephaly
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New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
2018
Investigador Principal: Pablo Huertas Sánchez
Centro de investigación o Institución: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)
más información
sobre New insights on Aicardi-Goutieres Syndrome, a novel connection with DNA repair
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Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
2018
Investigador Principal: María Luisa Toribio García
Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
más información
sobre Novel immunotherapeutic strategies against T-ALL, a rare pediatric disease
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Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases
2018
Investigador Principal: Juan Antonio García Ranea
Centro de investigación o Institución: CIBERER. Universidad de Málaga
más información
sobre Systems medicine applied to the identification of new therapeutic targets in rare genetic-based diseases
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Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK
2018
Investigador Principal: Rafael Vázquez Manrique
Centro de investigación o Institución: Instituto de Investigación Sanitaria La Fe. Valencia
más información
sobre Therapeutic strategy against Huntington's disease through the synergistic activation of AMPK
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A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing
2016
Investigador Principal: Carmen Ayuso García
Centro de investigación o Institución: Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD, UAM). CIBERER. Madrid.
más información
sobre A knowledge-based pipeline to increase the diagnosis rate of Rare Diseases using deep sequencing
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Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets
2016
Investigador Principal: Noemí de Luna Salvà
más información
sobre Activation of innate immunity in dysferlin-deficient cells: new therapeutic targets
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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
2016
Senior Researcher : Jorgina Satrústegui Gil-Delgado
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on AGC1 deficiency and calcium signaling in mitochondria: a new disease model for the study of pathogenic mechanisms and for the development of therapeutic strategies
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Astrocytes: new anti-epileptic targets in Lafora disease
2016
Senior Researcher : Pascual Felipe Sanz Bigorra
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on Astrocytes: new anti-epileptic targets in Lafora disease
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Dyskeratosis congenita. New models, New molecular keys and New treatments
2016
Senior Researcher : María Luisa Cayuela Fuentes
Research Centre or Institution : Hospital Clínico Universitario Virgen de la Arrixaca. Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca. El Palmar, Murcia.
more information
on Dyskeratosis congenita. New models, New molecular keys and New treatments
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Modeling of familial cerebral cavernous malformation through cellular reprogramming
2016
Senior Researcher : Miguel Ángel Fidalgo Pérez
Research Centre or Institution : Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS). Universidad de Santiago de Compostela
more information
on Modeling of familial cerebral cavernous malformation through cellular reprogramming
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Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
2016
Senior Researcher : César Cobaleda Hernández
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Molecular basis of immune deficiency in Wolf-Hirschhorn Syndrome (4p-)
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Phosphodiesterase inhibitors as Friedreich's ataxia treatment
2016
Senior Researcher : Pilar González Cabo
Research Centre or Institution : Centro de Investigación Biomédica en Red (CIBER de Enfermedades Raras). Facultad de Medicina y Odontología. Universidad de Valencia
more information
on Phosphodiesterase inhibitors as Friedreich's ataxia treatment
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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
2016
Investigador Principal: Paola Bovolenta Nicolao
Centro de investigación o Institución: Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
más información
sobre 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
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The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)
2016
Investigador Principal: Francesc Palau Martínez
Centro de investigación o Institución: Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.
más información
sobre The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)
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The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application
2016
Senior Researcher : Ángeles Almeida Parra
Research Centre or Institution : Instituto de Investigación Biomédica de Salamanca (IBSAL). CSIC-Universidad de Salamanca.
more information
on The function of the E3 ubiquitin ligase APC/C-Cdh1 in Fragile X Syndrome. Possible therapeutic application
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Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
2016
Senior Researcher : María del Carmen Sánchez Fernández
Research Centre or Institution : Instituto de Investigación contra la Leucemia Josep Carreras (IJC). Barcelona.
more information
on Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
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Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease
2016
Senior Researcher : José Jesús Fernández Rodríguez
Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
more information
on Visualisation of neuronal polysomal architecture and its alterations in Huntington's Disease
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Agenesis of the corpus callosum. Basic mechanisms and treatment
2014
Senior Researcher : Marta Nieto López
Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
more information
on Agenesis of the corpus callosum. Basic mechanisms and treatment
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Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia
2014
Senior Researcher : Felipe Cortés Ledesma
Research Centre or Institution : Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)
more information
on Cellular response to blocked breakages of DNA and its role in the pathogenesis of Ataxia-Telangiectasia
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Characterisation of MORC2, a new gene involved in peripheral neuropathies
2014
Senior Researcher : Carmen Espinós Armero
Research Centre or Institution : Centro de Investigación Príncipe Felipe
more information
on Characterisation of MORC2, a new gene involved in peripheral neuropathies
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Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy
2014
Senior Researcher : Lourdes Ruiz Desviat
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Genome and transcriptome analysis to identify splicing defects and in vivo evaluation of antisense therapy
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Identification of the function of the Wt1gene in Huntington's disease
2014
Senior Researcher : Ofelia M. Martínez Estrada
Research Centre or Institution : Departamento de Biología Celular. Universidad de Barcelona
more information
on Identification of the function of the Wt1gene in Huntington's disease
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Models for congenital muscular dystrophies: the search for phenotype suppressors
2014
Investigador Principal: Enrique Martín Blanco
Centro de investigación o Institución: Instituto de Biología Molecular de Barcelona. CSIC.
más información
sobre Models for congenital muscular dystrophies: the search for phenotype suppressors
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Molecular mechanisms in Dravet's syndrome
2014
Senior Researcher : Francisco Zafra Gómez
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Molecular mechanisms in Dravet's syndrome
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Molecular therapy for Laminopathies
2014
Senior Researcher : Ana María González García
Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
more information
on Molecular therapy for Laminopathies
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New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome
2014
Senior Researcher : José María González-Granado
Research Centre or Institution : Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid
more information
on New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome
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Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
2014
Senior Researcher : Rebeca Pérez de Diego
Research Centre or Institution : IdiPAZ, Instituto de Investigación Sanitaria del Hospital Universitario La Paz. Madrid.
more information
on Precision medicine in Primary Immunodeficiencies: deciphering new genetic etiologies by means of "omic" approaches
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Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life
2014
Senior Researcher : Mercedes Martínez-Pardo Casanova
Research Centre or Institution : CSUR (Centro de Referencia Nacional) de Enfermedades Metabólicas poco frecuentes. Hospital Universitario Ramón y Cajal (Madrid)
more information
on Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life
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Study of the molecular bases of hereditary blindness
2014
Senior Researcher : Ana Méndez Zunzunegui
Research Centre or Institution : Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.
more information
on Study of the molecular bases of hereditary blindness
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The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications
2014
Senior Researcher : Esther Pérez-Navarro
Research Centre or Institution : Universidad de Barcelona.
more information
on The nuclear lamin in Huntington's disease: its role in the pathology and therapeutic applications
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Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets
2014
Senior Researcher : José Manuel Bautista Santa Cruz
Research Centre or Institution : Instituto de Investigación Hospital 2 de Octubre. Madrid.
more information
on Tracing tissue damage and the adaptive response in rare hereditary haemochromatosis for the identification of specific therapeutic targets
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Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease
2011
Senior Researcher : Beatriz Morte Molina
Research Centre or Institution : Centros de Investigación Biomédica en Red (CIBER). Madrid
more information
on Allan-Herndon-Dudley syndrome: molecular mechanisms and a therapeutic approach in the murine model of the disease
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Analysis of the contribution of CRB2 protein to the establishment and permanence of adherent joins in the pigmentary epithelium, and its relationship with retinal dystrophies
2011
Investigador Principal: Mª Concepción Lillo Delgado
Centro de investigación o Institución: Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.
más información
sobre Analysis of the contribution of CRB2 protein to the establishment and permanence of adherent joins in the pigmentary epithelium, and its relationship with retinal dystrophies
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Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease
2011
Senior Researcher : Silvia Ginés Padrós
Research Centre or Institution : Universidad de Barcelona.
more information
on Cdk5: a therapeutic target for the treatment of motor and cognitive deficits in Huntington's disease
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Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix
2011
Senior Researcher : Gustavo Egea Guri
Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.
more information
on Chronic activation of the TGF‑beta route in Marfan's syndrome: deregulation of intracellular traffic and the extracellular matrix
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Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain
2011
Senior Researcher : Ana Vega Gliemmo
Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela.
more information
on Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain
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Directed neuronal differentiation of stem-like glioma initiating cells
2011
Senior Researcher : Núria de la Iglesia Zaragoza
Research Centre or Institution : Instituto de Investigaciones Biomédicas August Pi i Sunyer (IDIBAPS). Barcelona.
more information
on Directed neuronal differentiation of stem-like glioma initiating cells
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Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
2011
Senior Researcher : Miguel Ángel Moreno Pelayo
Research Centre or Institution : Hospital Universitario Ramón y Cajal, IRYCIS. Madrid.
more information
on Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
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Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies
2011
Senior Researcher : Mª del Pilar Rodríguez Pombo
Research Centre or Institution : Universidad Autónoma de Madrid.
more information
on Hereditary metabolic diseases: searching for new genes that cause diseases and research into new therapeutic strategies
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Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina
2011
Senior Researcher : Pere Garriga Solé
Research Centre or Institution : Universidad Politécnica de Cataluña. Barcelona.
more information
on Modification of the folding and function of mutated opsins by cellular factors as a new therapeutic strategy for degenerative diseases of the retina
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Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis
2011
Senior Researcher : Joan J. Guinovart Cirera
Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.
more information
on Modulation of the pathological accumulation of glycogen: therapeutic target for the treatment of Glycogenosis
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Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)
2011
Senior Researcher : Ángeles Martín Requero
Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)
more information
on Molecular mechanisms, experimental models and therapeutic approaches in Frontotemporal Lobe Dementia (DLFT-TDP)
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Pathological mechanisms in Lysinuria with protein intolerance
2011
Senior Researcher : Manuel Palacín Prieto
Research Centre or Institution : Instituto de Investigación Biomédica (IRB) Barcelona.
more information
on Pathological mechanisms in Lysinuria with protein intolerance
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Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia
2011
Senior Researcher : Petronila Penela Márquez
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Study of the functional implications of GRK2 serine-threonine kinase in Hereditary Haemorrhagic Telangiectasia
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Study of the role of PSGL-1 in the control of the development of autoimmune diseases
2011
Senior Researcher : Ana Carmen Urzainqui Mayayo
Research Centre or Institution : Hospital Universitario de la Princesa. Madrid.
more information
on Study of the role of PSGL-1 in the control of the development of autoimmune diseases
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The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences
2011
Senior Researcher : Marta Eugenia Alarcón Riquelme
Research Centre or Institution : Centro Pfizer. Universidad de Granada. Junta de Andalucía de Genómica e Investigación Oncológica (GENYO). Granada
more information
on The complete sequencing of the exomic genome of systemic lupus erythematosus in families of European origin with multiple cases: the identification of rare mutations and their functional consequences
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The correction of fibroblasts with mutations causing Wiskott Aldrich syndrome by means of adeno-associated viruses (AAV). The effects of corrective methods on cellular reprogramming by means of episomal vectors
2011
Senior Researcher : Miguel Ángel de la Fuente García
Research Centre or Institution : Instituto de Biología y Genética Molecular (IBGM).Valladolid.
more information
on The correction of fibroblasts with mutations causing Wiskott Aldrich syndrome by means of adeno-associated viruses (AAV). The effects of corrective methods on cellular reprogramming by means of episomal vectors
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The development of molecular scalpels for the repair of genes involved in single gene diseases
2011
Senior Researcher : Guillermo Montoya Blanco
Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid
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on The development of molecular scalpels for the repair of genes involved in single gene diseases
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The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis
2011
Senior Researcher : Andrés Celestino García Montero
Research Centre or Institution : Instituto de Biología Molecular y Celular del Cáncer. Universidad de Salamanca-CSIC.
more information
on The identification of genetic factors predicting for clonal progression in Systemic Mastocytosis
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The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms
2011
Senior Researcher : Guillermo Antiñolo Gil
Research Centre or Institution : Hospital Universitario Virgen del Rocío. Sevilla.
more information
on The identification of new genes responsible for Hereditary Dystrophies of the Retina using Next-Generation Sequencing technology and the determination of associated pathogenic mechanisms
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The molecular bases for variability in the presentation and clinical development of Wilson's disease
2011
Senior Researcher : Ignacio Vicente-Sandoval
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on The molecular bases for variability in the presentation and clinical development of Wilson's disease
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The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa
2011
Senior Researcher : María José Escámez Toledano
Research Centre or Institution : Universidad Carlos III de Madrid.
more information
on The transplant of bioengineered skin for cutaneous regeneration in patients with Dystrophic Epidermolysis Bullosa
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Translational Research into rare diseases of iron metabolism using massive parallel sequencing
2011
Senior Researcher : Mª del Carmen Sánchez Fernández
Research Centre or Institution : Instituto de Medicina Predictiva y Personalizada del Cáncer. Barcelona.
more information
on Translational Research into rare diseases of iron metabolism using massive parallel sequencing
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Alternative therapies for inherited metabolic diseases
2008
Senior Researcher : Alejandra Gámez Abascal
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Alternative therapies for inherited metabolic diseases
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Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease
2008
Senior Researcher : José Javier Lucas Lozano
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Analysis using genetically modified mice of the possible role of alpha-synuclein in the pathogenesis of Huntington's disease
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Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology
2008
Senior Researcher : Jesús Rodríguez Díaz
Research Centre or Institution : Instituto de Agroquímica y Tecnología deAlimentos(IATA). CSIC. Valencia. (Spain).
more information
on Characterisation of the autoantigen epitope in Goodpasture syndrome using phage display technology
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Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
2008
Senior Researcher : Jesús Pintor Just
Research Centre or Institution : Escuela Universitaria de Óptica. Universidad Complutense. Madrid
more information
on Contributions of aquaporins and transduction proteins in the treatment of achondroplasia
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Detection of molecules related to the mechanism of protection against canine Leishmaniasis. Differential gene expression in cells activated during the protection response induced by the LACK vaccine
2008
Senior Researcher : Vicente Emilio Larraga Rodríguez de Vera
Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)
more information
on Detection of molecules related to the mechanism of protection against canine Leishmaniasis. Differential gene expression in cells activated during the protection response induced by the LACK vaccine
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Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
2008
Senior Researcher : Rosario Perona Abellón
Research Centre or Institution : Instituto de Investigaciones Biomédicas de Madrid. CSIC-UAM.
more information
on Development of a therapy for the treatment of congenital dyskeratosis, X-linked Werner syndrome and aplastic anaemia based on the reactivation of telomerase activity by an internal fragment of dyskerin
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Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools
2008
Senior Researcher : Antonio Muro Álvarez
Research Centre or Institution : Centro de Investigación de Enfermedades Tropicales de la Universidad de Salamanca (CIETUS)
more information
on Development of a vaccine against Fasciola hepatica based on the use of bioinformatics tools
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Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development
2008
Senior Researcher : Ana Velasco Criado
Research Centre or Institution : Instituto de Neurociencias de Castilla y León. Universidad de Salamanca.
more information
on Effect of the oleic acid neurotrophic factor in an animal model of Down syndrome. Implications for central nervous system development
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Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders
2008
Senior Researcher : Marcos Malumbres Martínez
Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid
more information
on Genetic and cellular basis of 16p11.2-p12.2 microdeletion syndrome and related neural disorders
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Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
2008
Senior Researcher : Carmen Guerra González
Research Centre or Institution : Centro Nacional de Investigaciones Oncológicas (CNIO). Madrid
more information
on Involvement of Ras oncogenes in the development of Costello and Noonan syndromes
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Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
2008
Senior Researcher : José Antonio Esteban García
Research Centre or Institution : Centro de Biología Molecular "Severo Ochoa". CSIC-Universidad Autónoma de Madrid
more information
on Molecular and cellular bases of mental retardation associated with "Fragile X" syndrome
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Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
2008
Senior Researcher : Óscar Millet Aguilar-Galindo
Research Centre or Institution : Unidad de Biología Estructural. Centro de Investigación Cooperativa en Biociencias (CICbioGUNE). Vizcaya.
more information
on Molecular basis of congenital erythropoietic porphyria. In vivo stability studies of uroporphyrinogen III synthase
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Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
2008
Senior Researcher : Ignacio del Castillo Fernández del Pino
Research Centre or Institution : Hospital Universitario Ramón y Cajal. Madrid.
more information
on Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
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New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease
2008
Senior Researcher : Rubén Darío Artero Allepuz
Research Centre or Institution : Facultad de Biología. Universidad de Valencia
more information
on New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease
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Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders
2008
Senior Researcher : Carmen Ortiz Mellet
Research Centre or Institution : Facultad de Química. Universidad de Sevilla
more information
on Sp2-iminosugars as chemical chaperones: a general strategy for the treatment of lysosomal storage disorders
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Structural approach to the molecular basis of two rare kidney diseases
2008
Senior Researcher : Óscar Llorca Blanco
Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)
more information
on Structural approach to the molecular basis of two rare kidney diseases
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Study of the possible immunomodulation caused by Anisakis simplex larval antigens
2008
Senior Researcher : María del Carmen Cuéllar del Hoyo
Research Centre or Institution : Facultad de Farmacia. Universidad Complutense. Madrid
more information
on Study of the possible immunomodulation caused by Anisakis simplex larval antigens
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Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease
2008
Senior Researcher : Andrés Alonso García
Research Centre or Institution : Instituto de Biología y Genética Molecular. CSIC. Valladolid.
more information
on Study of the regulation of protein PSTPIP1 via tyrosine phosphorylation and its contribution to the aetiology of the PAPA autoinflammatory disease
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Towards a complete model of the molecular network disrupted in Fanconi anaemia
2008
Senior Researcher : Miguel Ángel Genestar Pujana
Research Centre or Institution : Instituto Catalán de Oncología. Instituto de Investigación Biomédica de Bellvitge (IDIBELL). Barcelona.
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on Towards a complete model of the molecular network disrupted in Fanconi anaemia
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Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics
2008
Senior Researcher : Francisco España Furió
Research Centre or Institution : Hospital Universitario La Fe. Valencia.
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on Type Gaucher's Disease. Phenotypic variability of bone disorders and their study using techniques of genomics, transcriptomics and proteomics
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Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation
2006
Senior Researcher : Montserrat Milà Recasens
Research Centre or Institution : Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona
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on Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation
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Characterisation of the astrocytic function in megalencephalic leukoencephalopathy
2006
Senior Researcher : Raúl Estévez Povedano
Research Centre or Institution : Instituto de Investigaciones Biomédicas de Bellvitge-Universidad de Barcelona.
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on Characterisation of the astrocytic function in megalencephalic leukoencephalopathy
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Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation
2006
Senior Researcher : María de la Luz Montesinos Gutiérrez
Research Centre or Institution : Facultad de Medicina. Universidad de Sevilla
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on Dendritic alterations in Down's Syndrome: the role of the pathway regulating local mTOR translation
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Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases
2006
Senior Researcher : Miguel Ángel Medina Torres
Research Centre or Institution : Facultad de Ciencias. Universidad de Málaga
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on Integration and modelling of the metabolism and biological effects of the biogenic amines, biomolecules directly involved in rare and emerging diseases
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Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection
2006
Senior Researcher : Víctor Luis Ruiz Pérez
Research Centre or Institution : Instituto de Investigaciones Biomédicas "Alberto Sols". CSIC-Universidad Autónoma de Madrid.
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on Molecular analysis of the Ellis-van Creveld Syndrome in the EVC3 epiphyseal growth plate and evaluation of the BBS-EvC connection
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Molecular foundations of the human ectodermic dysplasia syndrome
2006
Senior Researcher : Paloma Pérez Sánchez
Research Centre or Institution : Instituto de Biomedicina de Valencia. CSIC.
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on Molecular foundations of the human ectodermic dysplasia syndrome
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Neurobiological foundations of and genetic susceptibility to fibromyalgia
2006
Senior Researcher : Manuel J. López Pérez
Research Centre or Institution : Facultad de Veterinaria. Universidad de Zaragoza
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on Neurobiological foundations of and genetic susceptibility to fibromyalgia
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Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal
2006
Senior Researcher : María José Trujillo Tiebas
Research Centre or Institution : Fundación Jiménez Díaz. Madrid
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on Study of the molecular foundations of congenital malformations: cardiovascular, oculofacial and skeletal
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Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype
2006
Senior Researcher : Carlos Pipaón González
Research Centre or Institution : Hospital Universitario Marqués de Valdecilla. Universidad de Cantabria. Santander.
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on Study of the role of the epigenetic mechanisms in the Fanconi Anaemia cancer tendency phenotype
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Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model
2006
Senior Researcher : Luisa María Botella Cubells
Research Centre or Institution : Centro de Investigaciones Biológicas (CSIC)
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on Therapeutic trials in cells from patients suffering hereditary haemorrhagic telangiectasis (HHT) and cell gene therapy employing endothelial progenitor cells in an HHT murine model