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Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: illa i. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610
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. Among authors: illa i. 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
Gene expression profiling in limb-girdle muscular dystrophy 2A.
Sáenz A, Azpitarte M, Armañanzas R, Leturcq F, Alzualde A, Inza I, García-Bragado F, De la Herran G, Corcuera J, Cabello A, Navarro C, De la Torre C, Gallardo E, Illa I, López de Munain A. Sáenz A, et al. Among authors: illa i. PLoS One. 2008;3(11):e3750. doi: 10.1371/journal.pone.0003750. Epub 2008 Nov 18. PLoS One. 2008. PMID: 19015733 Free PMC article.
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. Among authors: illa i. 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
273 results