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Page 1
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
García-Redondo A, Dols-Icardo O, Rojas-García R, Esteban-Pérez J, Cordero-Vázquez P, Muñoz-Blanco JL, Catalina I, González-Muñoz M, Varona L, Sarasola E, Povedano M, Sevilla T, Guerrero A, Pardo J, López de Munain A, Márquez-Infante C, de Rivera FJ, Pastor P, Jericó I, de Arcaya AÁ, Mora JS, Clarimón J; C9ORF72 Spanish Study Group; Gonzalo-Martínez JF, Juárez-Rufián A, Atencia G, Jiménez-Bautista R, Morán Y, Mascías J, Hernández-Barral M, Kapetanovic S, García-Barcina M, Alcalá C, Vela A, Ramírez-Ramos C, Galán L, Pérez-Tur J, Quintáns B, Sobrido MJ, Fernández-Torrón R, Poza JJ, Gorostidi A, Paradas C, Villoslada P, Larrodé P, Capablo JL, Pascual-Calvet J, Goñi M, Morgado Y, Guitart M, Moreno-Laguna S, Rueda A, Martín-Estefanía C, Cemillán C, Blesa R, Lleó A. García-Redondo A, et al. Hum Mutat. 2013 Jan;34(1):79-82. doi: 10.1002/humu.22211. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22936364
Rapidly Reversible Winging Scapula.
Fernández-Torrón R, López de Munain A, Camaño P, García-Bragado F. Fernández-Torrón R, et al. Arthritis Rheumatol. 2015 Sep;67(9):2502. doi: 10.1002/art.39202. Arthritis Rheumatol. 2015. PMID: 25988578 No abstract available.
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
Dols-Icardo O, Nebot I, Gorostidi A, Ortega-Cubero S, Hernández I, Rojas-García R, García-Redondo A, Povedano M, Lladó A, Álvarez V, Sánchez-Juan P, Pardo J, Jericó I, Vázquez-Costa J, Sevilla T, Cardona F, Indakoechea B, Moreno F, Fernández-Torrón R, Muñoz-Llahuna L, Moreno-Grau S, Rosende-Roca M, Vela Á, Muñoz-Blanco JL, Combarros O, Coto E, Alcolea D, Fortea J, Lleó A, Sánchez-Valle R, Esteban-Pérez J, Ruiz A, Pastor P, López De Munain A, Pérez-Tur J, Clarimón J; Dementia Genetics Spanish Consortium (DEGESCO). Dols-Icardo O, et al. Brain. 2015 Dec;138(Pt 12):e400. doi: 10.1093/brain/awv175. Epub 2015 Jul 7. Brain. 2015. PMID: 26152333 Free article. No abstract available.
Muscle wasting in myotonic dystrophies: a model of premature aging.
Mateos-Aierdi AJ, Goicoechea M, Aiastui A, Fernández-Torrón R, Garcia-Puga M, Matheu A, López de Munain A. Mateos-Aierdi AJ, et al. Front Aging Neurosci. 2015 Jul 9;7:125. doi: 10.3389/fnagi.2015.00125. eCollection 2015. Front Aging Neurosci. 2015. PMID: 26217220 Free PMC article. Review.
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
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Zufiría M, Gil-Bea FJ, Fernández-Torrón R, Poza JJ, Muñoz-Blanco JL, Rojas-García R, Riancho J, López de Munain A. Zufiría M, et al. Prog Neurobiol. 2016 Jul;142:104-129. doi: 10.1016/j.pneurobio.2016.05.004. Epub 2016 May 26. Prog Neurobiol. 2016. PMID: 27236050 Review.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 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. 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
Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J. Alonso-Pérez J, et al. Med Clin (Barc). 2020 Feb 14;154(3):80-85. doi: 10.1016/j.medcli.2019.03.036. Epub 2019 Jun 26. Med Clin (Barc). 2020. PMID: 31253477 English, Spanish.
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