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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F. Claramunt R, et al. Among authors: espinos c. J Med Genet. 2005 Apr;42(4):358-65. doi: 10.1136/jmg.2004.022178. J Med Genet. 2005. PMID: 15805163 Free PMC article. No abstract available.
A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.
Calpena E, Martínez-Rubio D, Arpa J, García-Peñas JJ, Montaner D, Dopazo J, Palau F, Espinós C. Calpena E, et al. Among authors: espinos c. Neuromuscul Disord. 2014 Aug;24(8):660-5. doi: 10.1016/j.nmd.2014.04.004. Epub 2014 May 9. Neuromuscul Disord. 2014. PMID: 24878226
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.
Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R. Yubero D, et al. Among authors: espinos c. BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5. BMC Pediatr. 2014. PMID: 25381171 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: espinos c. Eur J Neurol. 2015 Dec;22(12):1548-55. doi: 10.1111/ene.12782. Epub 2015 Jul 24. Eur J Neurol. 2015. PMID: 26204789
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C, Sevilla T. Frasquet M, et al. Among authors: espinos c. J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1265-1268. doi: 10.1136/jnnp-2015-312890. Epub 2016 Apr 15. J Neurol Neurosurg Psychiatry. 2016. PMID: 27083531 No abstract available.
113 results