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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2010 1
2011 3
2012 2
2013 2
2014 2
2015 3
2016 2
2017 2
2019 1
2020 3
2021 2
2022 3
2023 1
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23 results
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Page 1
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V. Frasquet M, et al. Among authors: sivera r. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10. Eur J Neurol. 2021. PMID: 33369814
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Sivera R, Lupo V, Frasquet M, Argente-Escrig H, Alonso-Pérez J, Díaz-Manera J, Querol L, Del Mar García-Romero M, Ignacio Pascual S, García-Sobrino T, Paradas C, Francisco Vázquez-Costa J, Muelas N, Millet E, Jesús Vílchez J, Espinós C, Sevilla T. Sivera R, et al. Eur J Neurol. 2021 Sep;28(9):3001-3011. doi: 10.1111/ene.15001. Epub 2021 Jul 18. Eur J Neurol. 2021. PMID: 34189813
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I; Programa 3 (Enfermedades Neuromusculares) del Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) del Instituto de Salud Carlos III. Berciano J, et al. Among authors: sivera r. Neurologia. 2012 Apr;27(3):169-78. doi: 10.1016/j.nrl.2011.04.015. Epub 2011 Jun 23. Neurologia. 2012. PMID: 21703725 Free article. Review. Spanish.
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas FP, Saporta MA, Attarian S, Sevilla T, Sivera R, Fabrizi GM, Genovese F, Gray AJ, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Paoli X, Sénéchal T, Day L, Ouyang C, Llewellyn S, Larkin M, Boutalbi Y. Thomas FP, et al. Among authors: sivera r. J Clin Neuromuscul Dis. 2022 Sep 1;24(1):7-17. doi: 10.1097/CND.0000000000000426. Epub 2022 Aug 19. J Clin Neuromuscul Dis. 2022. PMID: 36005469 Free PMC article.
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.
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.
Sivera R, Cavalle L, Vílchez JJ, Espinós C, Pérez Garrigues H, Sevilla T. Sivera R, et al. J Int Adv Otol. 2017 Apr;13(1):93-99. doi: 10.5152/iao.2017.3379. J Int Adv Otol. 2017. PMID: 28555600 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
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. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
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
23 results