Mostrando resultados 22 a 32 de 32
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 10-abr-2015 | Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy | Barneo Muñoz, Manuela CSIC; Juárez, Paula CSIC; Civera-Tregón, Azahara CSIC; Yndriago, Laura; Pla-Martín, David CSIC; Zenker, Jennifer; Cuevas-Martín, Carmen CSIC; Estela, Anna CSIC; Sánchez-Aragó, María CSIC; Forteza, Jerónimo; Cuezva, José M. CSIC ORCID; Chrast, Roman; Palau Martínez, Francesc CSIC ORCID | artículo |
| openAccess |  | 2009 | Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway | Lupo, Vincenzo CSIC ORCID; Galindo, Máximo I. CSIC ORCID; Martínez-Rubio, Dolores CSIC ORCID; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 13-may-2014 | Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism | Bolinches-Amorós, Arantxa CSIC; Mollá, Belén CSIC ORCID; Pla-Martín, David CSIC; Palau Martínez, Francesc CSIC ORCID; González-Cabo, Pilar CSIC ORCID | artículo |
| openAccess |  | 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen CSIC ORCID; Pineda, Mercé; Martínez-Rubio, Dolores CSIC ORCID; Lupo, Vincenzo CSIC ORCID; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael | artículo |
| openAccess |  | 13-jun-2012 | Neural and molecular features on charcot-marie-tooth disease plasticity and therapy | Juárez, Paula CSIC; Palau Martínez, Francesc CSIC ORCID | artículo |
| openAccess |  | mar-2012 | Personalized medicine in rare diseases | Palau Martínez, Francesc CSIC ORCID | preprint |
| openAccess |  | abr-2019 | Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich's Ataxia Mouse Model | Mollá, Belén CSIC ORCID; Muñoz-Lasso, Diana C.; Calap, Pablo; Fernandez-Vilata, Angel; de la Iglesia-Vaya, María; Pallardó, Federico V.; Moltó, Maria Dolores; Palau Martínez, Francesc CSIC ORCID; González-Cabo, Pilar CSIC ORCID | artículo |
| openAccess |  | 30-ago-2017 | Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice. | Mollá, Belén CSIC ORCID; Muñoz-Lasso, Diana C.; Riveiro, Fátima CSIC; Bolinches-Amorós, Arantxa CSIC; Pallardó, Federico V.; Fernandez-Vilata, Angel; de la Iglesia-Vaya, María; Palau Martínez, Francesc CSIC ORCID; González-Cabo, Pilar CSIC ORCID | artículo |
| closedAccess |  | 2015 | The HLA-DQ2 genotype selects for early intestinal microbiota composition in infants at high risk of developing coeliac disease | Olivares, Marta CSIC ORCID; Neef, A; Capilla, Amalia CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Nova, Esther CSIC ORCID ; Marcos, Ascensión CSIC ORCID; Izquierdo Faubel, Luis CSIC; Sanz Herranz, Yolanda CSIC ORCID | artículo |
| openAccess |  | 2010 | The USH2A c.2299delG mutation: dating its common origin in a Southern European population | Aller, Elena; Larrieu, Lise; Jaijo, Teresa CSIC ORCID; Baux, David; Espinós, Carmen CSIC ORCID; González-Candelas, Fernando CSIC ORCID; Nájera, Carmen; Palau Martínez, Francesc CSIC ORCID; Claustres, Mireille; Roux, Anne-Françoise; Millán, José M. | artículo |
| openAccess |  | 2016 | Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia | Mollá, Belén CSIC ORCID; Riveiro, Fátima CSIC; Bolinches-Amorós, Arantxa CSIC; Muñoz-Lasso, Diana C.; Palau Martínez, Francesc CSIC ORCID; González-Cabo, Pilar CSIC ORCID | artículo |
