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Browsing by Author Martínez-Rubio, Dolores

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Showing results 1 to 6 of 6
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, Carmen artículo
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, Carmen artículo
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
openAccess2011 J Peripher Nerv Syst 16-347 vers aut.pdf.jpgDec-2011Congenital hypomyelinating neuropathy due to a novel MPZ mutationSevilla, Teresa; Lupo, Vincenzo ; Sivera, Rafael; Marco-Marín, Clara ; Martínez-Rubio, Dolores ; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc ; Espinós, Carmen artículo
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, Carmen artículo
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