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| Rights | Preview | Issue Date | Title | Author(s) | Type |
| openAccess |  | 6-Jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 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 CSIC; Lupo, Vincenzo CSIC ORCID; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| closedAccess |  | 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 CSIC; Palau Martínez, Francesc CSIC ORCID; Pocoví, Miguel; Barberá Tomás, David CSIC ORCID; Woolley, Richard CSIC ORCID; Giraldo, Pilar | póster de congreso |
| openAccess |  | 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 CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| openAccess |  | 17-Nov-2006 | Autosomal recessive cerebellar ataxias | Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCID | artículo |
| closedAccess |  | 2006 | Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation | Artuch, Rafael; Brea-Calvo, Gloria CSIC ORCID; Briones, Paz CSIC; Aracil, Asunción; Galván, Marta; Espinós, Carmen CSIC ORCID; Corral, Jordi; Volpini, Víctor; Ribes, Antonia; Andreu, Antoni L.; Palau Martínez, Francesc CSIC ORCID; Sánchez-Alcázar, José Antonio CSIC ORCID ; Navas, Plácido CSIC ORCID; Pineda, Mercé | artículo |
| openAccess |  | 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 CSIC; Pla-Martín, David CSIC; Sánchez-Piris, Maribel CSIC; Sesaki, Hiromi; Palau Martínez, Francesc CSIC ORCID | artículo |
| openAccess |  | 21-Feb-2017 | CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca 2+ entry-stimulated respiration | González-Sánchez, Paloma CSIC; Pla-Martín, David CSIC; Martínez-Valero, Paula; Rueda, Carlos B. CSIC; Calpena, Eduardo CSIC ORCID; Arco, Araceli del; Palau Martínez, Francesc CSIC ORCID; Satrústegui, Jorgina CSIC ORCID | artículo |
| closedAccess |  | 13-Apr-2010 | Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up | Pineda, Mercé; Montero, Raquel; Martínez-Rubio, Dolores CSIC; Palau Martínez, Francesc CSIC ORCID; Navas, Plácido CSIC ORCID; Briones, Paz CSIC; Artuch, Rafael | artículo |
| openAccess |  | Dec-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; 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-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 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-Jan-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-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 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 |
