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Digital.CSIC >
Browsing by Author Palau Martínez, Francesc
Showing results 1 to 20 of 21
| Issue Date | Title | Author(s) | Type | | 6-Jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo; Casado, Mercedes; Martínez-Rubio, Dolores; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc; Artuch, Rafael; Espinós, Carmen | Artículo |
| Sep-2008 | A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency | Fernández-Burriel, Miguel; Martínez-Rubio, Dolores; Lupo, Vincenzo; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc; Espinós, Carmen | Artículo |
| 2013 | Análisis de la estructura de organizaciones de un centro de expertos en enfermedades raras: El caso de la unidad de referencia para la enfermedad de Gaucher del Hospital Universitario Miguel Servet | Villanueva Félez, África; Palau Martínez, Francesc; Pocoví, Miguel; Barberá Tomás, David; Woolley, Richard; Alfonso, Pilar; Irún, Pilar; Giraldo, Pilar | Póster |
| 2005 | Ancient origin of the CAG expansion causing Huntington disease in a Spanish population | García-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar, Millán; Palau Martínez, Francesc; Espinós, Carmen | Artículo |
| 17-Nov-2006 | Autosomal recessive cerebellar ataxias | Palau Martínez, Francesc; Espinós, Carmen | Artículo |
| 2-Sep-2011 | Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells | Estela, Anna; Pla-Martín, David; Sánchez-Piris, Maribel; Sesaki, Hiromi; Palau Martínez, Francesc | Artículo |
| 13-Apr-2010 | Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up | Pineda, Mercé; Aracil, Asunción; O'Callaghan, Mar M.; Más, Ana; Espinos, Carmen; Martínez-Rubio, Dolores; Palau Martínez, Francesc; Navas, Plácido; Briones, Paz; Artuch, Rafael | Artículo |
| 19-Oct-2010 | Determinants for research on rare diseases | Palau Martínez, Francesc | Presentación |
| 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; Gonzalez-Cabo, Pilar; Dasí, Francisco; Bolinches-Amorós, Arantxa; Mollá, Belén; Palau Martínez, Francesc; Pallardó, Federico V. | Artículo |
| 4-Apr-2011 | Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans | González-Cabo, Pilar; Bolinches-Amorós, Arantxa; Cabello, Juan; Ros, Sheila; Moreno, Sergio; Palau Martínez, Francesc; Vázquez-Manrique, Rafael P. | Artículo |
| 25-Jan-2010 | Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency | Gonzalez-Cabo, Pilar; Ros Cantera, Sheila; Palau Martínez, Francesc | Artículo |
| 21-Aug-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; Serrano, Mercedes | Artículo |
| 2011 | Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides species | Sánchez, E.; Palma, Giada de; Capilla, Amalia; Nova, Esther; Pozo Rubio, Tamara; Castillejo, Gemma; Varea, Vicente; Marcos, Ascensión; Garrote, José Antonio; Polanco, Isabel; López, Ana; Ribes-Koninckx, Carmen; García Novo, M. Dolores; Calvo, Carmen; Ortigosa, Luis; Palau Martínez, Francesc; Sanz, Yolanda | Artículo |
| 3-Feb-2012 | Influence of Milk-Feeding Type and Genetic Risk of Developing Coeliac Disease on Intestinal Microbiota of Infants: The PROFICEL Study | De Palma, Giada; Capilla, Amalia; Nova, Esther; Castillejo, Gemma; Varea, Vicente; Pozo Rubio, Tamara; Garrote, José Antonio; Polanco, Isabel; López, Ana; Ribes-Koninckx, Carmen; Marcos, Ascensión; García Novo, María Dolores; Calvo, Carmen; Ortigosa, Luis; Peña-Quintana, Luis; Palau Martínez, Francesc; Sanz, Yolanda | Artículo |
| Jan-2010 | Interplay Between Human Leukocyte Antigen Genes and the Microbial Colonization Process of the Newborn Intestine | Palma, Giada de; Capilla, Amalia; Nadal, Inmaculada; Nova, Esther; Pozo Rubio, Tamara; Varea, Vicente; Polanco, Isabel; Castillejo, Gemma; López, Antonio; Garrote, José Antonio; Calvo, Carmen; García Novo, María Dolores; Cilleruelo, M. L.; Ribes-Koninckx, Carmen; Palau Martínez, Francesc; Sanz, Yolanda | Artículo |
| 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; Galindo, Máximo I.; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc; Espinós, Carmen | Artículo |
| 13-May-2014 | Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism | Bolinches-Amorós, Arantxa; Mollá, Belén; Pla-Martín, David; Palau Martínez, Francesc; González-Cabo, Pilar | Artículo |
| 2009 | Mutations in the urocanase gene UROC1 are associated with urocanic aciduria | Espinós, Carmen; Pineda, Mercè; Martínez-Rubio, Dolores; Lupo, Vincenzo; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc; Artuch, Rafael | Artículo |
| 13-Jun-2012 | Neural and molecular features on charcot-marie-tooth disease plasticity and therapy | Paula Juárez, Paula; Palau Martínez, Francesc | Artículo |
| Mar-2012 | Personalized medicine in rare diseases | Palau Martínez, Francesc | Pre-print |
Showing results 1 to 20 of 21
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