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203 results

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Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C. Sevilla T, et al. Among authors: palau f. J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. J Peripher Nerv Syst. 2011. PMID: 22176150 Free article.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C. Sevilla T, et al. Among authors: palau f. Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24. Brain. 2016. PMID: 26497905
Vestibular impairment in Charcot-Marie-Tooth disease type 4C.
Pérez-Garrigues H, Sivera R, Vílchez JJ, Espinós C, Palau F, Sevilla T. Pérez-Garrigues H, et al. Among authors: palau f. J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):824-7. doi: 10.1136/jnnp-2013-307421. Epub 2014 Mar 10. J Neurol Neurosurg Psychiatry. 2014. PMID: 24614092
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: palau f. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.
Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F, Cuezva JM. Soldevilla B, et al. Among authors: palau f. PLoS One. 2017 Jun 2;12(6):e0178376. doi: 10.1371/journal.pone.0178376. eCollection 2017. PLoS One. 2017. PMID: 28575008 Free PMC article.
203 results