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Browsing by Author Martínez-Rubio, Dolores

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Showing results 1 to 5 of 5
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
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
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
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