Espinós C - Search Results

1

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.

Espinós C, Galindo MI, García-Gimeno MA, Ibáñez-Cabellos JS, Martínez-Rubio D, Millán JM, Rodrigo R, Sanz P, Seco-Cervera M, Sevilla T, Tapia A, Pallardó FV. Espinós C, et al. Antioxidants (Basel). 2020 Apr 15;9(4):313. doi: 10.3390/antiox9040313. Antioxidants (Basel). 2020. PMID: 32326494 Free PMC article. Review.

2

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

García-Planells J, Burguera JA, Solís P, Millán JM, Ginestar D, Palau F, Espinós C. García-Planells J, et al. Among authors: espinos c. Hum Mutat. 2005 May;25(5):453-9. doi: 10.1002/humu.20167. Hum Mutat. 2005. PMID: 15832309 Free article.

3

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F. Sevilla T, et al. Among authors: espinos c. Brain. 2008 Nov;131(Pt 11):3051-61. doi: 10.1093/brain/awn228. Epub 2008 Sep 23. Brain. 2008. PMID: 18812441

4

Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C.

Martínez-Rubio D, Millán JM, Palau F, Espinós C. Martínez-Rubio D, et al. Among authors: espinos c. Hum Genet. 2008 Oct;124(3):320. Hum Genet. 2008. PMID: 18846676 No abstract available.

5

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Lupo V, et al. Among authors: espinos c. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. doi: 10.1093/hmg/ddp427. Epub 2009 Sep 10. Hum Mol Genet. 2009. PMID: 19744956 Free article.

6

The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Aller E, et al. Among authors: espinos c. Eur J Hum Genet. 2010 Jul;18(7):788-93. doi: 10.1038/ejhg.2010.14. Epub 2010 Feb 10. Eur J Hum Genet. 2010. PMID: 20145675 Free PMC article.

7

Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T. Sivera R, et al. Among authors: espinos c. J Peripher Nerv Syst. 2010 Dec;15(4):334-44. doi: 10.1111/j.1529-8027.2010.00286.x. J Peripher Nerv Syst. 2010. PMID: 21199105

8

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: espinos c. 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.

9

Autosomal recessive Charcot-Marie-Tooth neuropathy.

Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Adv Exp Med Biol. 2012. PMID: 22411234 Review.

10

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

García-García G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinós C, Rosell J, Olea JL, Mendívil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millán JM. García-García G, et al. Among authors: espinos c. Mol Vis. 2012;18:3070-8. Epub 2012 Dec 29. Mol Vis. 2012. PMID: 23304067 Free PMC article.

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