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Listar por palabra clave "Charcot-Marie-Tooth disease"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Listar por palabra clave "Charcot-Marie-Tooth disease"

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    Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy 
    Lupo, Vincenzo; García-García, Francisco; Sancho, Paula; Tello, Cristina; García-Romero, Mar; Villarreal, Liliana; Alberti, Antonia; Sivera, Rafael; Pascual-Pascual, Samuel I.; Márquez-Infante, Celedonio; Casasnovas, Carlos; Sevilla, Teresa; Espinós-Armero, Carmen Ángeles (Elsevier, 2016-03)
    [EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...
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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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    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 MORC2 gene cause axonal Charcot-Marie-Tooth disease 
    Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J.; García-Romero, Mar; Pascual-Pascual, Samuel I.; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J.; Palau, Francesc; Espinós-Armero, Carmen Ángeles (Oxford University Press, 2016-01-01)
    [EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger ...
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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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    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: ...