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Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

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Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series

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Sivera, R.; Sevilla, T.; Vílchez, JJ.; Martínez-Rubio, D.; Chumillas, MJ.; Vázquez, JF.; Muelas, N.... (2013). Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series. Neurology. 81(18):1617-1625. https://doi.org/10.1212/WNL.0b013e3182a9f56a

Por favor, use este identificador para citar o enlazar este ítem: http://hdl.handle.net/10251/201249

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Title: Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series
Author: 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
UPV Unit: Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural
Issued date:
Abstract:
[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 ...[+]
Subjects: Charcot-Marie-Tooth disease , Genetic distribution , GDAP1
Copyrigths: Reserva de todos los derechos
Source:
Neurology. (eissn: 0028-3878 )
DOI: 10.1212/WNL.0b013e3182a9f56a
Publisher:
Ovid Technologies (Wolters Kluwer) - American Academy of Neurology
Publisher version: https://doi.org/10.1212/WNL.0b013e3182a9f56a
Project ID:
info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/
...[+]
info:eu-repo/grantAgreement/MICINN//CP08%2F00053/ES/CP08%2F00053/
info:eu-repo/grantAgreement/MICINN//PI08%2F90857/ES/RACIONALIZACIÓN DEL DIAGNÓSTICO MOLECULAR DE LAS ENFERMEDADES GENÉTICAS RARAS: EL MODELO DE LA NEUROPATÍA DE CHARCOT-MARIE-TOOTH/
info:eu-repo/grantAgreement/MINECO//PI12%2F00453/ES/Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/
info:eu-repo/grantAgreement/ISCIII//IR11%2FTREAT-CMT//Translational Research, Experimental Medicine and Therapeutics on Charcot-Marie-Tooth disease /
info:eu-repo/grantAgreement/ISCIII//PI08%2F90857/
info:eu-repo/grantAgreement/ISCIII//PI08%2F0889/
info:eu-repo/grantAgreement/ISCIII//CP08%2F00053/
info:eu-repo/grantAgreement/ISCIII//PI12%2F00453//Investigación traslacional y mecanismos de enfermedad en neuropatías periféricas hereditarias/
info:eu-repo/grantAgreement/ISCIII//PI12%2F0946/
info:eu-repo/grantAgreement/Conselleria d'Educació, Investigació, Cultura i Esport de la Generalitat Valenciana//Prometeo%2F2009%2F05/
[-]
Thanks:
This collaborative joint project is awarded by IRDiRC and funded by the Instituto de Salud Carlos III (ISCIII)-Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R+D+I ...[+]
Type: Artículo

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