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Page 1
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A. Fernández-Eulate G, et al. Eur J Neurol. 2020 Aug;27(8):1364-1373. doi: 10.1111/ene.14272. Epub 2020 May 24. Eur J Neurol. 2020. PMID: 32320108
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.
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. 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
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.
69 results