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Page 1
Clinical picture of a patient with a novel PSEN1 mutation (L424V).
Robles A, Sobrido MJ, García-Murias M, Prieto JM, Lema M, Santos D, Paramo M. Robles A, et al. Am J Alzheimers Dis Other Demen. 2009 Feb-Mar;24(1):40-5. doi: 10.1177/1533317508324272. Epub 2008 Nov 10. Am J Alzheimers Dis Other Demen. 2009. PMID: 19001354 Free PMC article.
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. Ortolano S, et al. Neuromuscul Disord. 2011 Apr;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1. Neuromuscul Disord. 2011. PMID: 21288719
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.
Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia».
Arias M, García-Murias M, Sobrido MJ. Arias M, et al. Among authors: garcia murias m. Neurologia. 2017 Jul-Aug;32(6):386-393. doi: 10.1016/j.nrl.2014.11.005. Epub 2015 Jan 13. Neurologia. 2017. PMID: 25593102 Free article. Review. English, Spanish.
Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36).
Martínez-Regueiro R, Arias M, Cruz R, Quintáns B, Labella-Caballero T, Pardo M, Pardo J, García-Murias M, Carracedo A, Sobrido MJ, Fernández-Prieto M. Martínez-Regueiro R, et al. Among authors: garcia murias m. Cerebellum. 2020 Aug;19(4):501-509. doi: 10.1007/s12311-020-01110-0. Cerebellum. 2020. PMID: 32270466
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.
McEachin ZT, Gendron TF, Raj N, García-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, García-Sobrino T, Quintáns B, Holler CJ, Taylor G, San Millán B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N; Neuro–CEB Neuropathology Network; Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido MJ, Petrucelli L, Rossoll W, Bassell GJ. McEachin ZT, et al. Among authors: garcia murias m. Neuron. 2020 Jul 22;107(2):292-305.e6. doi: 10.1016/j.neuron.2020.04.011. Epub 2020 May 5. Neuron. 2020. PMID: 32375063 Free PMC article.
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Keller A, et al. Among authors: garcia murias m. Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4. Nat Genet. 2013. PMID: 23913003
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM, Carrera N, García-Murias M, Shabaka A, Ávila A, Mora Mora MT, Rabasco C, Soto K, de la Prada Alvarez FJ, Fernández-Lorente L, Rodríguez-Moreno A, Huerta A, Mon C, García-Carro C, González Cabrera F, Navarro JAM, Romera A, Gutiérrez E, Villacorta J, de Lorenzo A, Avilés B, Garca-González MA, Fernández-Juárez G. Tato AM, et al. Among authors: garcia murias m. Clin Kidney J. 2023 Aug 10;16(11):2011-2022. doi: 10.1093/ckj/sfad193. eCollection 2023 Nov. Clin Kidney J. 2023. PMID: 37915894 Free PMC article.
12 results