Pascual-Pascual SI - Search Results

1

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations.

Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C. Sancho P, et al. Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006. Hum Mol Genet. 2019. PMID: 30624633

2

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. Brain. 2016 Jan;139(Pt 1):62-72. doi: 10.1093/brain/awv311. Epub 2015 Oct 24. Brain. 2016. PMID: 26497905

3

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.

Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C. Lupo V, et al. J Mol Diagn. 2016 Mar;18(2):225-34. doi: 10.1016/j.jmoldx.2015.10.005. Epub 2016 Jan 2. J Mol Diagn. 2016. PMID: 26752306 Free article.

4

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.

Lupo V, Won S, Frasquet M, Schnitzler MS, Komath SS, Pascual-Pascual SI, Espinós C, Svaren J, Sevilla T. Lupo V, et al. Eur J Neurol. 2020 Dec;27(12):2662-2667. doi: 10.1111/ene.14512. Epub 2020 Sep 27. Eur J Neurol. 2020. PMID: 32896048

5

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

Lupo V, Pascual-Pascual SI, Sancho P, Calpena E, Gutiérrez-Molina M, Mateo-Martínez G, Espinós C, Arriola-Pereda G. Lupo V, et al. J Child Neurol. 2015 Oct;30(11):1544-8. doi: 10.1177/0883073815571049. Epub 2015 Feb 18. J Child Neurol. 2015. PMID: 25694466

6

Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene.

Arellano CM, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Castro AA, Espinos C, Rodriguez ML, Jendelova P, Erceg S. Arellano CM, et al. Stem Cell Res. 2018 Aug;31:249-252. doi: 10.1016/j.scr.2018.07.012. Epub 2018 Jul 27. Stem Cell Res. 2018. PMID: 30144656 Free article.

7

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mutation in SACSIN gene.

Machuca C, Vilches A, Clemente E, Pascual-Pascual SI, Bolinches-Amorós A, Artero Castro A, Espinos C, Leon M, Jendelova P, Erceg S. Machuca C, et al. Stem Cell Res. 2018 Dec;33:166-170. doi: 10.1016/j.scr.2018.10.016. Epub 2018 Oct 12. Stem Cell Res. 2018. PMID: 30384130 Free article.

8

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.

Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J. Milla CP, et al. J Genet. 2019 Sep;98:71. J Genet. 2019. PMID: 31544778 Free article.

9

SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.

Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group. Sánchez-Ferrero E, et al. Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21. Clin Genet. 2013. PMID: 22571692

10

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D. Belaya K, et al. Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27. Am J Hum Genet. 2012. PMID: 22742743 Free PMC article.

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