Espinós C - Search Results

1

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Sivera R, Pelayo-Negro AL, Jericó I, Domínguez-González C, Horga A, Rodriguez De Rivera FJ, Gallardo E, Tembl JI, Bermejo-Guerrero L, Pagola Lorz MI, Azorín I, Cordoba M, Fenollar-Cortés MDM, Millet E, Vilchez JJ, Espinós C, Apellániz-Ruiz M, Sevilla T. Sivera R, et al. Among authors: espinos c. Neurology. 2024 Apr 9;102(7):e209174. doi: 10.1212/WNL.0000000000209174. Epub 2024 Mar 21. Neurology. 2024. PMID: 38513194

2

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C, Chrast R. Gouttenoire EA, et al. Among authors: espinos c. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667

3

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A. Buján N, et al. Among authors: espinos c. J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18. J Inherit Metab Dis. 2014. PMID: 23774949

4

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. Among authors: espinos c. 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.

5

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R. Tondo M, et al. Among authors: espinos c. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. Mol Genet Metab. 2013. PMID: 23890588

6

Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.

Espinós C, Lorenzo JI, Casaña P, Martínez F, Aznar JA. Espinós C, et al. Haematologica. 2000 Oct;85(10):1092-5. Haematologica. 2000. PMID: 11025603

7

Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.

Artuch R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P, Pineda M. Artuch R, et al. Among authors: espinos c. J Neurol Sci. 2006 Jul 15;246(1-2):153-8. doi: 10.1016/j.jns.2006.01.021. Epub 2006 May 3. J Neurol Sci. 2006. PMID: 16677673

8

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

9

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.

10

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

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