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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: sivera r. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
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: sivera r. 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.
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: sivera r. 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
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C. Sevilla T, et al. Among authors: sivera r. Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24. Eur J Neurol. 2015. PMID: 26204789
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: sivera r. Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24. Brain. 2016. PMID: 26497905
30 results