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Browsing by Author Palau Martínez, Francesc

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RightsIssue DateTitleAuthor(s)
openAccess6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo; Casado, Mercedes; Martínez-Rubio, Dolores; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc; Artuch, Rafael; Espinós, Carmen
openAccessSep-2008A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiencyFernández-Burriel, Miguel; Martínez-Rubio, Dolores; Lupo, Vincenzo; Pérez-Colosía, Víctor; Piñán-López, Esther; Palau Martínez, Francesc; Espinós, Carmen
closedAccess2013Análisis 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 ServetVillanueva Félez, África; Palau Martínez, Francesc; Pocoví, Miguel; Barberá Tomás, David; Woolley, Richard; Alfonso, Pilar; Irún, Pilar; Giraldo, Pilar
openAccess2005Ancient origin of the CAG expansion causing Huntington disease in a Spanish populationGarcía-Planells, Javier; Burguera, Juan A.; Solís, Pilar; Millán, José M.; Ginestar, Millán; Palau Martínez, Francesc; Espinós, Carmen
openAccess17-Nov-2006Autosomal recessive cerebellar ataxiasPalau Martínez, Francesc; Espinós, Carmen
openAccess2-Sep-2011Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cellsEstela, Anna; Pla-Martín, David; Sánchez-Piris, Maribel; Sesaki, Hiromi; Palau Martínez, Francesc
closedAccess13-Apr-2010Coenzyme Q10-responsive ataxia: 2-year-treatment follow-upPineda, Mercé; Aracil, Asunción; O'Callaghan, Mar M.; Más, Ana; Espinos, Carmen; Martínez-Rubio, Dolores; Palau Martínez, Francesc; Navas, Plácido; Briones, Paz; Artuch, Rafael
openAccess19-Oct-2010Determinants for research on rare diseasesPalau Martínez, Francesc
openAccess7-Jun-2011Differential Expression of PGC-1α and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia FibroblastsGarcía-Giménez, José Luis; Gimeno, Amparo; Gonzalez-Cabo, Pilar; Dasí, Francisco; Bolinches-Amorós, Arantxa; Mollá, Belén; Palau Martínez, Francesc; Pallardó, Federico V.
openAccess4-Apr-2011Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegansGonzález-Cabo, Pilar; Bolinches-Amorós, Arantxa; Cabello, Juan; Ros, Sheila; Moreno, Sergio; Palau Martínez, Francesc; Vázquez-Manrique, Rafael P.
openAccess25-Jan-2010Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin DeficiencyGonzalez-Cabo, Pilar; Ros Cantera, Sheila; Palau Martínez, Francesc
openAccess21-Aug-2012Guiametabolica.org: empowerment through internet tools in inherited metabolic diseasesArmayones, Manuel; Vilaseca, M. A.; Cutillas, Júlia; Fàbrega, Jordi; Fernández, Jorge J.; García, Mei; Egea, Natàlia; Pousada, Modesta; Gómez-Zuñiga, Beni; Pérez-Payarols, Jaume, et al
closedAccess2011Influence of environmental and genetic factors linked to celiac disease risk on infant gut colonization by Bacteroides speciesSánchez, E.; Palma, Giada de; Capilla, Amalia; Nova, Esther; Pozo Rubio, Tamara; Castillejo, Gemma; Varea, Vicente; Marcos, Ascensión; Garrote, José Antonio; Polanco, Isabel, et al
openAccess3-Feb-2012Influence of Milk-Feeding Type and Genetic Risk of Developing Coeliac Disease on Intestinal Microbiota of Infants: The PROFICEL StudyDe Palma, Giada; Capilla, Amalia; Nova, Esther; Castillejo, Gemma; Varea, Vicente; Pozo Rubio, Tamara; Garrote, José Antonio; Polanco, Isabel; López, Ana; Ribes-Koninckx, Carmen, et al
openAccessJan-2010Interplay Between Human Leukocyte Antigen Genes and the Microbial Colonization Process of the Newborn IntestinePalma, Giada de; Capilla, Amalia; Nadal, Inmaculada; Nova, Esther; Pozo Rubio, Tamara; Varea, Vicente; Polanco, Isabel; Castillejo, Gemma; López, Antonio; Garrote, José Antonio, et al
openAccess2009Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathwayLupo, Vincenzo; Galindo, Máximo I.; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan J.; Palau Martínez, Francesc; Espinós, Carmen
openAccess13-May-2014Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolismBolinches-Amorós, Arantxa; Mollá, Belén; Pla-Martín, David; Palau Martínez, Francesc; González-Cabo, Pilar
openAccess2009Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaEspinós, Carmen; Pineda, Mercè; Martínez-Rubio, Dolores; Lupo, Vincenzo; Ormazabal, Aida; Vilaseca, María A.; Spaapen, Leo J. M.; Palau Martínez, Francesc; Artuch, Rafael
openAccess13-Jun-2012Neural and molecular features on charcot-marie-tooth disease plasticity and therapyPaula Juárez, Paula; Palau Martínez, Francesc
openAccessMar-2012Personalized medicine in rare diseasesPalau Martínez, Francesc