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Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E, Carrasco-Rozas A, Gallardo E, González-Quereda L, Alonso-Pérez J, Belmonte I, Pedrosa-Hernández I, Montiel E, Segovia S, Suárez-Calvet X, Llauger J, Mayos M, Illa I, Barba-Romero MA, Barcena J, Paradas C, Carzorla MR, Creus C, Coll-Cantí J, Díaz M, Domínguez C, Fernández-Torrón R, García-Antelo MJ, Grau JM, López de Munáin A, Martínez-García FA, Morgado Y, Moreno A, Morís G, Muñoz-Blanco MA, Nascimento A, Parajuá-Pozo JL, Querol L, Rojas R, Robledo-Strauss A, Rojas-Marcos Í, Salazar JA, Usón M, Díaz-Manera J. Fernández-Simón E, et al. Mol Genet Metab. 2019 Sep-Oct;128(1-2):129-136. doi: 10.1016/j.ymgme.2019.07.013. Epub 2019 Jul 23. Mol Genet Metab. 2019. PMID: 31378569 Clinical Trial.
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
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
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.
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I. Díaz-Manera J, et al. Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22. Neuromuscul Disord. 2016. PMID: 26573435
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
43 results