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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Gonzalez-Quereda L, et al. Among authors: rodriguez mj. Genes (Basel). 2020 May 11;11(5):539. doi: 10.3390/genes11050539. Genes (Basel). 2020. PMID: 32403337 Free PMC article.
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. Among authors: rodriguez mj. 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
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. Among authors: rodriguez mj. 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.
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. Among authors: rodriguez mj. PLoS One. 2013;8(3):e59916. doi: 10.1371/journal.pone.0059916. Epub 2013 Mar 25. PLoS One. 2013. PMID: 23536893 Free PMC article.
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. Among authors: rodriguez mj. 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
509 results