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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | dic-2011 | Congenital hypomyelinating neuropathy due to a novel MPZ mutation | Sevilla, Teresa; Lupo, Vincenzo CSIC ORCID; Sivera, Rafael; Marco-Marín, Clara CSIC ORCID; Martínez-Rubio, Dolores CSIC ORCID; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 19-oct-2010 | Determinants for research on rare diseases | Palau Martínez, Francesc CSIC ORCID | presentación |
| openAccess |  | 7-jun-2011 | Differential Expression of PGC-1α and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia Fibroblasts | García-Giménez, José Luis; Gimeno, Amparo; González-Cabo, Pilar CSIC ORCID; Dasí, Francisco; Bolinches-Amorós, Arantxa CSIC; Mollá, Belén CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Pallardó, Federico V. | artículo |
| openAccess |  | 4-abr-2011 | Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans | González-Cabo, Pilar CSIC ORCID; Bolinches-Amorós, Arantxa CSIC; Cabello, Juan CSIC ORCID; Ros, Sheila CSIC; Moreno, Sergio CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Vázquez-Manrique, Rafael P. CSIC ORCID | artículo |
| openAccess |  | 25-ene-2010 | Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency | González-Cabo, Pilar CSIC ORCID; Ros, Sheila CSIC; Palau Martínez, Francesc CSIC ORCID | artículo |
| openAccess |  | 21-ago-2012 | Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases | Armayones, Manuel; Vilaseca, M. A.; Cutillas, Júlia; Fàbrega, Jordi; Fernández, Jorge J.; García, Mei; Egea, Natàlia; Pousada, Modesta; Gómez-Zuñiga, Beni; Pérez-Payarols, Jaume; Artuch, Rafael; Palau Martínez, Francesc CSIC ORCID; Serrano, Mercedes | artículo |
| openAccess |  | 20-feb-2018 | Gut microbiota trajectory in early life may predict development of celiac disease | Olivares, Marta CSIC ORCID; Walker, Alan W.; Capilla, Amalia CSIC ORCID; Benítez-Páez, Alfonso CSIC ORCID ; Palau Martínez, Francesc CSIC ORCID; Parkhill, Julian; Castillejo, Gemma; Sanz Herranz, Yolanda CSIC ORCID | artículo |
| openAccess |  | 2-nov-2018 | Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study | Olivares, Marta CSIC ORCID; Benítez-Páez, Alfonso CSIC ORCID ; Palma, Giada de CSIC ORCID; Capilla, Amalia CSIC ORCID; Nova, Esther CSIC ORCID ; Castillejo, Gemma; Varea, Vicente; Marcos, Ascensión CSIC ORCID; Garrote, José Antonio CSIC ORCID CVN; Polanco, Isabel; Donat, Ester; Ribes-Koninckx, Carmen; Calvo, Carmen; Ortigosa, Luis; Palau Martínez, Francesc CSIC ORCID; Sanz Herranz, Yolanda CSIC ORCID | artículo |
| closedAccess |  | 2011 | Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species | Sánchez, Ester; Palma, Giada de CSIC ORCID; Capilla, Amalia CSIC ORCID; Nova, Esther CSIC ORCID ; Pozo Rubio, Tamara CSIC; Castillejo, Gemma; Varea, Vicente; Marcos, Ascensión CSIC ORCID; Garrote, José Antonio CSIC ORCID CVN; Polanco, Isabel; López, Ana; Ribes-Koninckx, Carmen; García Novo, M. Dolores; Calvo, Carmen; Ortigosa, Luis; Palau Martínez, Francesc CSIC ORCID; Sanz, Yolanda | artículo |
| openAccess |  | 3-feb-2012 | Influence of Milk-Feeding Type and Genetic Risk of Developing Coeliac Disease on Intestinal Microbiota of Infants: The PROFICEL Study | Palma, Giada de CSIC ORCID; Capilla, Amalia CSIC ORCID; Nova, Esther CSIC ORCID ; Castillejo, Gemma; Varea, Vicente; Pozo Rubio, Tamara CSIC; Garrote, José Antonio CSIC ORCID CVN; Polanco, Isabel; López, Ana; Ribes-Koninckx, Carmen; Marcos, Ascensión CSIC ORCID; García Novo, M. Dolores; Calvo, Carmen; Ortigosa, Luis; Peña-Quintana, Luis; Palau Martínez, Francesc CSIC ORCID; Sanz Herranz, Yolanda CSIC ORCID | artículo |
| openAccess |  | 2014 | ¿Innovaciones ocultas en enfermedades raras? Analizando las diversas formas de retorno social de la investigación clínica | Barberá Tomás, David CSIC ORCID; Palau Martínez, Francesc CSIC ORCID; Villanueva Félez, África CSIC; Woolley, Richard CSIC ORCID | artículo |
| openAccess |  | ene-2010 | Interplay Between Human Leukocyte Antigen Genes and the Microbial Colonization Process of the Newborn Intestine | Palma, Giada de CSIC ORCID; Capilla, Amalia CSIC ORCID; Nadal, Inmaculada CSIC; Nova, Esther CSIC ORCID ; Pozo Rubio, Tamara CSIC; Varea, Vicente; Polanco, Isabel; Castillejo, Gemma; López, Antonio; Garrote, José Antonio CSIC ORCID CVN; Calvo, Carmen; García Novo, M. Dolores; Cilleruelo, M. L.; Ribes-Koninckx, Carmen; Palau Martínez, Francesc CSIC ORCID; Sanz Herranz, Yolanda CSIC ORCID | artículo |
| 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 |
