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1 |
Material Type: Artigo
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LRP-1 and LRP-2 receptors function in the membrane neuron. Trafficking mechanisms and proteolytic processing in Alzheimer's diseaseSpuch, Carlos ; Ortolano, Saida ; Navarro, CarmenFrontiers in physiology, 2012-01, Vol.3, p.269 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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2 |
Material Type: Artigo
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New Insights in the Amyloid-Beta Interaction with MitochondriaSpuch, Carlos ; Ortolano, Saida ; Navarro, Carmen Vijg, JanJournal of Aging Research, 2012, Vol.2012, p.324968-9 [Periódico revisado por pares]United States: Hindawi LimitedsTexto completo disponível |
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3 |
Material Type: Artigo
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Advances in the Treatment of Neurodegenerative Disorders Employing NanoparticlesSpuch, Carlos ; Saida, Ortolano ; Navarro, CarmenRecent patents on drug delivery & formulation, 2012-04, Vol.6 (1), p.2-18 [Periódico revisado por pares]United Arab Emirates: Bentham Science Publishers LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMELIA, Maria J ; KUBOTA, Akatsuki ; GARCIA-ARUMI, Elena ; ANDREU, Antoni L ; NAVARRO, Carmen ; HIRANO, Michio ; MARTI, Ramon ; ORTOLANO, Saida ; VILCHEZ, Juan J ; GAMEZ, Josep ; TANJ I, Kurenai ; BONILLA, Eduardo ; PALENZUELA, Lluís ; FERNANDEZ-CADENAS, Israel ; PRISTOUPILOVA, AnnaBrain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1508-1517 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Fabry disease in the Spanish population: observational study with detection of 77 patientsVieitez, Irene ; Souto-Rodriguez, Olga ; Fernandez-Mosquera, Lorena ; San Millan, Beatriz ; Teijeira, Susana ; Fernandez-Martin, Julian ; Martinez-Sanchez, Felisa ; Aldamiz-Echevarria, Luis Jose ; Lopez-Rodriguez, Monica ; Navarro, Carmen ; Ortolano, SaidaOrphanet journal of rare diseases, 2018-04, Vol.13 (1), p.52-52, Article 52 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish FamilySan Millán-Tejado, Beatriz ; Navarro, Carmen ; Fernández-Martín, Julián ; Rivera, Alberto ; Viéitez, Irene ; Teijeira, Susana ; Ortolano, SaidaJournal of clinical medicine, 2023-08, Vol.12 (17), p.5689 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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7 |
Material Type: Artigo
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Intronic mutations in GLA causes Fabry disease (1138.5)Ortolano, Saida ; Vieitez, Irene ; Souto, Olga ; Garcia‐Jimenez, Concepcion ; Pintos, Guillem ; Navarro, CarmenThe FASEB journal, 2014-04, Vol.28 (S1), p.n/a [Periódico revisado por pares]The Federation of American Societies for Experimental BiologyTexto completo disponível |
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Material Type: Artigo
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Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutationsVieitez, Irene ; Teijeira, Susana ; Fernandez, Jose M ; San Millan, Beatriz ; Miranda, Sara ; Ortolano, Saida ; Louis, Sarah ; Laforet, Pascal ; Navarro, CarmenNeuromuscular disorders : NMD, 2011-12, Vol.21 (12), p.817-823 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathyOrtolano, Saida ; Tarrío, Rosa ; Blanco-Arias, Patricia ; Teijeira, Susana ; Rodríguez-Trelles, Francisco ; García-Murias, María ; Delague, Valerie ; Lévy, Nicolas ; Fernández, José M ; Quintáns, Beatriz ; Millán, Beatriz San ; Carracedo, Ángel ; Navarro, Carmen ; Sobrido, María-JesúsNeuromuscular disorders : NMD, 2011-04, Vol.21 (4), p.254-262 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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10 |
Material Type: Artigo
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Treatment of Lysosomal Storage Diseases: Recent Patents and Future StrategiesOrtolano, Saida ; Viéitez, Irene ; Navarro, Carmen ; Spuch, CarlosRecent patents on endocrine, metabolic & immune drug discovery, 2014-01, Vol.8 (1), p.9-25United Arab Emirates: Bentham Science Publishers LtdTexto completo disponível |