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Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vázquez-Costa JF, Borrego-Hernández D, Paradas C, Gómez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, García-Sobrino T, Jericó Pascual I, Gutiérrez A, Riancho J, Turon-Sans J, Assialioui A, Pérez-Tur J, Sevilla T, Esteban Pérez J, García-Redondo A; ALSGESCO. Vázquez-Costa JF, et al. Eur J Neurol. 2022 Dec 9. doi: 10.1111/ene.15661. Online ahead of print. Eur J Neurol. 2022. PMID: 36484631
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium. McLaughlin RL, et al. Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774. Nat Commun. 2017. PMID: 28322246 Free PMC article.
Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr; REGAIN Study Group. Andersen H, et al. Qual Life Res. 2019 Aug;28(8):2247-2254. doi: 10.1007/s11136-019-02148-2. Epub 2019 Mar 23. Qual Life Res. 2019. PMID: 30905021 Free PMC article. Clinical Trial.
Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation.
Dols-Icardo O, García-Redondo A, Rojas-García R, Borrego-Hernández D, Illán-Gala I, Muñoz-Blanco JL, Rábano A, Cervera-Carles L, Juárez-Rufián A, Spataro N, De Luna N, Galán L, Cortes-Vicente E, Fortea J, Blesa R, Grau-Rivera O, Lleó A, Esteban-Pérez J, Gelpi E, Clarimón J. Dols-Icardo O, et al. J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):162-168. doi: 10.1136/jnnp-2017-316820. Epub 2017 Sep 9. J Neurol Neurosurg Psychiatry. 2018. PMID: 28889094
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
Decreased circulating ErbB4 ectodomain fragments as a read-out of impaired signaling function in amyotrophic lateral sclerosis.
Lopez-Font I, Sogorb-Esteve A, Javier-Torrent M, Brinkmalm G, Herrando-Grabulosa M, García-Lareu B, Turon-Sans J, Rojas-García R, Lleó A, Saura CA, Zetterberg H, Blennow K, Bosch A, Navarro X, Sáez-Valero J. Lopez-Font I, et al. Neurobiol Dis. 2019 Apr;124:428-438. doi: 10.1016/j.nbd.2018.12.021. Epub 2018 Dec 27. Neurobiol Dis. 2019. PMID: 30594809
147 results