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Listar por Patrocinador "Fundació Per Amor a l Art"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por Patrocinador "Fundació Per Amor a l Art"

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    Characterizing the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations 
    Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa (BMJ, 2018-12)
    [EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
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    Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain 
    Sánchez-Monteagudo, Ana; Álvarez-Sauco, María; Sastre, Isabel; Martínez-Torres, Irene; Lupo,Vincenzo; Berenguer, Marina; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2020-05)
    [EN] Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to ...