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Listar por autor "Querol Bataller, Luis"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por autor "Querol Bataller, Luis"

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    Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series 
    Sivera, Rafael; Sevilla, T.; Vílchez, Juan Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vázquez, Juan Francisco; Muelas, Nuria; Bataller, Luis; Millán, José María; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Ovid Technologies (Wolters Kluwer) - American Academy of Neurology, 2013-10-29)
    [EN] Objectives: To determine the genetic distribution and the phenotypic correlation of an extensive series of patients with Charcot-Marie-Tooth disease in a geographically well-defined Mediterranean area. Methods: A ...
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    Estación intermodal en Bétera 
    Querol Bataller, Luis (Universitat Politècnica de València, 2016-06-15)
    El proyecto se aborda desde la sencillez y la simplicidad, mediante líneas rectas y estableciendo diferentes plataformas que continúan los niveles existentes, lo que permite multiplicar el espacio disponible sin ...
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    Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease 
    Sivera, Rafael; Espinós-Armero, Carmen Ángeles; Vílchez, Juan J.; Mas, Fernando; Martínez-Rubio, Dolores; Chumillas, María José; Mayordomo, Fernando; Muelas, Nuria; Bataller, Luis; Palau, Francesc; Sevilla, Teresa (Blackwell Publishing, 2010-12)
    [EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...
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    Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy 
    Sevilla, Teresa; Jaijo, Teresa; Nauffal, Dolores; Collado, Diego; Chumillas, María José; Vilchez, Juan J.; Muelas, Nuria; Bataller, Luis; Domènech, Rosalia; Espinós-Armero, Carmen Ángeles; Palau, Francesc (Oxford University Press, 2008-11)
    [EN] Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ...