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Browsing by Author Martínez-Rubio, Dolores

Showing results 1 to 5 of 5
RightsPreviewIssue DateTitleAuthor(s)Type
openAccess2013 JIMD Rep 7-123.pdf.jpg6-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, CarmenArtículo
openAccessMAIN_DOCUMENT.pdf.jpgSep-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, CarmenArtículo
closedAccessaccesoRestringido.pdf.jpg13-Apr-2010Coenzyme Q10-responsive ataxia: 2-year-treatment follow-upPineda, Mercé; Montero, Raquel; Martínez-Rubio, Dolores; Palau Martínez, Francesc; Navas, Plácido; Briones, Paz; Artuch, RafaelArtículo
openAccessLupo_Text.pdf.jpg2009Missense 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, CarmenArtículo
openAccessUROCANASE J Med genet revised version_19.pdf.jpg2009Mutations 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, RafaelArtículo