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1 |
Material Type: Artigo
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Small Molecules: Substrate Inhibitors, Chaperones, Stop-Codon Read Through, and BeyondOrtolano, SaidaJournal of inborn errors of metabolism and screening, 30 August 2016, Vol.4 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Newborn screening for Fabry disease in the north-west of SpainColon, Cristobal ; Ortolano, Saida ; Melcon-Crespo, Cristina ; Alvarez, Jose ; Lopez-Suarez, Olalla ; Couce, Maria ; Fernández-Lorenzo, JoséEuropean Journal of Pediatrics, 2017, Vol.176(8), pp.1075-1081 [Periódico revisado por pares]Texto completo disponível |
3 |
Material Type: Artigo
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Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner earOrtolano , Saida ; Di Pasquale , Giovanni ; Crispino , Giulia ; Anselmi , Fabio ; Mammano , Fabio ; Chiorini , John A.Proceedings of the National Academy of Sciences of the United States of America, 2008, Vol.105(48), pp.18776-18781 [Periódico revisado por pares]National Academy of Sciences 2008Texto completo disponível |
4 |
Material Type: Artigo
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMelià, Maria J ; Kubota, Akatsuki ; Ortolano, Saida ; Vílchez, Juan J ; Gámez, Josep ; Tanji, Kurenai ; Bonilla, Eduardo ; Palenzuela, Lluís ; Fernández - Cadenas, Israel ; Přistoupilová, Anna ; García - Arumí, Elena ; Andreu, Antoni L ; Navarro, Carmen ; Hirano, Michio ; Martí, RamonBrain, 2013, Vol. 136(5), pp.1508-1517 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in miceBortolozzi, Mario ; Brini, Marisa ; Parkinson, Nick ; Crispino, Giulia ; Scimemi, Pietro ; De Siati, Romolo Daniele ; Di Leva, Francesca ; Parker, Andrew ; Ortolano, Saida ; Arslan, Edoardo ; Brown, Steve D ; Carafoli, Ernesto ; Mammano, FabioThe Journal of biological chemistry, 26 November 2010, Vol.285(48), pp.37693-703 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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New insights in the amyloid-Beta interaction with mitochondriaSpuch, Carlos ; Ortolano, Saida ; Navarro, CarmenJournal of aging research, 2012, Vol.2012, pp.324968 [Periódico revisado por pares]Texto completo disponível |
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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, 9 pages [Periódico revisado por pares]Texto completo disponível |
8 |
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, Vol.3, pp.269 [Periódico revisado por pares]Texto completo disponível |
9 |
Material Type: Artigo
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ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca²⁺ signals across the inner earAnselmi , Fabio ; Hernandez , Victor H. ; Crispino , Giulia ; Seydel , Anke ; Ortolano , Saida ; Roper , Stephen D. ; Kessaris , Nicoletta ; Richardson , William ; Rickheit , Gesa ; Filippov , Mikhail A. ; Monyer , Hannah ; Mammano , FabioProceedings of the National Academy of Sciences of the United States of America, 2008, Vol.105(48), pp.18770-18775 [Periódico revisado por pares]National Academy of Sciences 2008Texto completo disponível |
10 |
Material Type: Artigo
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Loss of GABAergic cortical neurons underlies the neuropathology of Lafora diseaseOrtolano, Saida ; Vieitez, Irene ; Agis-Balboa, Roberto Carlos ; Spuch, CarlosMolecular Brain, Jan 28, 2014, Vol.7(1) [Periódico revisado por pares]Texto completo disponível |