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Page 1
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Juan-Mateu J, Rodríguez MJ, Nascimento A, Jiménez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M, Gallano P. Juan-Mateu J, et al. Orphanet J Rare Dis. 2012 Oct 23;7:82. doi: 10.1186/1750-1172-7-82. Orphanet J Rare Dis. 2012. PMID: 23092449 Free PMC article.
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
De Luna N, Freixas A, Gallano P, Caselles L, Rojas-García R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vílchez JJ, Márquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E. De Luna N, et al. Neuromuscul Disord. 2007 Jan;17(1):69-76. doi: 10.1016/j.nmd.2006.09.006. Epub 2006 Oct 27. Neuromuscul Disord. 2007. PMID: 17070050
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P, Gallano P, González-Quereda L, Rivas-Infante E, Teijeira S, Navarro C, Bautista-Lorite J. González-Pérez P, et al. J Neurol Sci. 2009 Jan 15;276(1-2):95-8. doi: 10.1016/j.jns.2008.09.009. Epub 2008 Oct 19. J Neurol Sci. 2009. PMID: 18930476
A new phenotype of dysferlinopathy with congenital onset.
Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P. Paradas C, et al. Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084402
LMNA mutation in progeroid syndrome in association with strokes.
Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M, Gallano P. Gonzalez-Quereda L, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e576-9. doi: 10.1016/j.ejmg.2011.06.012. Epub 2011 Jul 18. Eur J Med Genet. 2011. PMID: 21791255
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J, González-Quereda L, Rodríguez MJ, Verdura E, Lázaro K, Jou C, Nascimento A, Jiménez-Mallebrera C, Colomer J, Monges S, Lubieniecki F, Foncuberta ME, Pascual-Pascual SI, Molano J, Baiget M, Gallano P. Juan-Mateu J, et al. PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25. PLoS One. 2013. PMID: 23536893 Free PMC article.
44 results