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Page 1
MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways.
Pérez-Soriano A, Bravo P, Soto M, Infante J, Fernández M, Valldeoriola F, Muñoz E, Compta Y, Tolosa E, Garrido A, Ezquerra M, Fernández-Santiago R, Martí MJ; Catalan MSA registry (CMSAR). Pérez-Soriano A, et al. Mov Disord. 2020 Oct;35(10):1873-1879. doi: 10.1002/mds.28143. Epub 2020 Jul 20. Mov Disord. 2020. PMID: 32687224
Discovering the 3' UTR-mediated regulation of alpha-synuclein.
Marchese D, Botta-Orfila T, Cirillo D, Rodriguez JA, Livi CM, Fernández-Santiago R, Ezquerra M, Martí MJ, Bechara E, Tartaglia GG; Catalan MSA Registry (CMSAR). Marchese D, et al. Nucleic Acids Res. 2017 Dec 15;45(22):12888-12903. doi: 10.1093/nar/gkx1048. Nucleic Acids Res. 2017. PMID: 29149290 Free PMC article.
Cerebrospinal fluid levels of coenzyme Q10 are reduced in multiple system atrophy.
Compta Y, Giraldo DM, Muñoz E, Antonelli F, Fernández M, Bravo P, Soto M, Cámara A, Torres F, Martí MJ; Catalan MSA Registry (CMSAR). Compta Y, et al. Parkinsonism Relat Disord. 2018 Jan;46:16-23. doi: 10.1016/j.parkreldis.2017.10.010. Epub 2017 Oct 20. Parkinsonism Relat Disord. 2018. PMID: 29107645
Clinical and imaging markers in premotor LRRK2 G2019S mutation carriers.
Vilas D, Ispierto L, Álvarez R, Pont-Sunyer C, Martí MJ, Valldeoriola F, Compta Y, de Fabregues O, Hernández-Vara J, Puente V, Calopa M, Jaumà S, Campdelacreu J, Aguilar M, Quílez P, Casquero P, Lomeña F, Ríos J, Tolosa E. Vilas D, et al. Among authors: jauma s. Parkinsonism Relat Disord. 2015 Oct;21(10):1170-6. doi: 10.1016/j.parkreldis.2015.08.007. Epub 2015 Aug 12. Parkinsonism Relat Disord. 2015. PMID: 26306001
Sleep Disorders in Parkinsonian and Nonparkinsonian LRRK2 Mutation Carriers.
Pont-Sunyer C, Iranzo A, Gaig C, Fernández-Arcos A, Vilas D, Valldeoriola F, Compta Y, Fernández-Santiago R, Fernández M, Bayés A, Calopa M, Casquero P, de Fàbregues O, Jaumà S, Puente V, Salamero M, José Martí M, Santamaría J, Tolosa E. Pont-Sunyer C, et al. Among authors: jauma s. PLoS One. 2015 Jul 15;10(7):e0132368. doi: 10.1371/journal.pone.0132368. eCollection 2015. PLoS One. 2015. PMID: 26177462 Free PMC article.
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Hsu SC, et al. Among authors: jauma s. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334463 Free PMC article.
Unusual forehead tremor in four patients with essential tremor.
Gascón-Bayarri J, Campdelacreu J, Calopa M, Jaumà S, Bau L, Povedano M, Montero J. Gascón-Bayarri J, et al. Among authors: jauma s. Case Rep Neurol Med. 2012;2012:278140. doi: 10.1155/2012/278140. Epub 2012 Jul 17. Case Rep Neurol Med. 2012. PMID: 22953088 Free PMC article.
20 results