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Browsing by Author "Martínez-Rubio, D."

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Browsing by Author "Martínez-Rubio, D."

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    Genetic epidemiology of the Charcot-Marie-Tooth in the Spanish Gypsy population: the Hereditary Motor and Sensory Neuropathy type Russe in depth 
    Sevilla, T.; Martínez-Rubio, D.; Márquez, C.; Paradas, C.; Colomer, J.; Jaijo, T.; Millán, JM; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2013-06)
    [EN] Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT ...
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    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria 
    Espinós-Armero, Carmen Ángeles; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, Francesc; Rafael Artuch; Lupo,V (BMJ, 2009-06)
    [EN] Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p. L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria ...
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    The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease 
    Sevilla, T.; Sivera, R.; Martínez-Rubio, D.; Lupo, V.; Chumillas, M.J.; Calpena-Corpas, E.; Dopazo, J.; Vílchez, J.J.; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2015-12)
    [EN] Background and purpose: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype. Methods: ...