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CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.
Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Martí-Sánchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R, Lucas JJ. Picó S, et al. Among authors: mir p. Sci Transl Med. 2021 Sep 29;13(613):eabe7104. doi: 10.1126/scitranslmed.abe7104. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586830 Free article.
Increased bilirubin levels in Parkinson's disease.
Macías-García D, Méndez-Del Barrio C, Jesús S, Labrador MA, Adarmes-Gómez A, Vargas-González L, Carrillo F, Gómez-Garre P, Mir P. Macías-García D, et al. Among authors: mir p. Parkinsonism Relat Disord. 2019 Jun;63:213-216. doi: 10.1016/j.parkreldis.2019.01.012. Epub 2019 Jan 14. Parkinsonism Relat Disord. 2019. PMID: 30661841
Orthostatic Myoclonus Secondary to Central Pontine Myelinolysis.
Muñoz-Delgado L, Macías-García D, Jesús S, Adarmes-Gómez A, Palomar FJ, Carrillo F, Mir P. Muñoz-Delgado L, et al. Among authors: mir p. Mov Disord Clin Pract. 2020 Mar 16;7(3):335-337. doi: 10.1002/mdc3.12917. eCollection 2020 Apr. Mov Disord Clin Pract. 2020. PMID: 32258236 Free PMC article. No abstract available.
Analysis of p.Tyr307Asn variant in the LRP10 gene in Parkinson's disease in southern Spain.
Periñán MT, Macías-García D, Buiza-Rueda D, Guijarro-Albaladejo B, Jesús S, Adarmes-Gómez AD, Escuela R, Vigo-Ortega R, Gómez-Garre P, Mir P. Periñán MT, et al. Among authors: mir p. Neurobiol Aging. 2020 Sep;93:142.e1-142.e3. doi: 10.1016/j.neurobiolaging.2020.04.007. Epub 2020 Apr 15. Neurobiol Aging. 2020. PMID: 32409252
Association of PICALM with Cognitive Impairment in Parkinson's Disease.
Periñán MT, Macías-García D, Labrador-Espinosa MÁ, Jesús S, Buiza-Rueda D, Adarmes-Gómez AD, Muñoz-Delgado L, Gómez-Garre P, Mir P. Periñán MT, et al. Among authors: mir p. Mov Disord. 2021 Jan;36(1):118-123. doi: 10.1002/mds.28283. Epub 2020 Sep 11. Mov Disord. 2021. PMID: 32914893
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
Jesús S, Hinarejos I, Carrillo F, Martínez-Rubio D, Macías-García D, Sánchez-Monteagudo A, Adarmes A, Lupo V, Pérez-Dueñas B, Mir P, Espinós C. Jesús S, et al. Among authors: mir p. Neurol Genet. 2021 Jan 21;7(1):e543. doi: 10.1212/NXG.0000000000000543. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33585677 Free PMC article. No abstract available.
Long runs of homozygosity are associated with Alzheimer's disease.
Moreno-Grau S, Fernández MV, de Rojas I, Garcia-González P, Hernández I, Farias F, Budde JP, Quintela I, Madrid L, González-Pérez A, Montrreal L, Alarcón-Martín E, Alegret M, Maroñas O, Pineda JA, Macías J; GR@ACE study group; DEGESCO consortium; Marquié M, Valero S, Benaque A, Clarimón J, Bullido MJ, García-Ribas G, Pástor P, Sánchez-Juan P, Álvarez V, Piñol-Ripoll G, García-Alberca JM, Royo JL, Franco-Macías E, Mir P, Calero M, Medina M, Rábano A, Ávila J, Antúnez C, Real LM, Orellana A, Carracedo Á, Sáez ME, Tárraga L, Boada M, Cruchaga C, Ruiz A; Alzheimer’s Disease Neuroimaging Initiative. Moreno-Grau S, et al. Among authors: mir p. Transl Psychiatry. 2021 Feb 24;11(1):142. doi: 10.1038/s41398-020-01145-1. Transl Psychiatry. 2021. PMID: 33627629 Free PMC article.
Levodopa-Induced Dyskinesia in Parkinson Disease Specifically Associates With Dopaminergic Depletion in Sensorimotor-Related Functional Subregions of the Striatum.
Labrador-Espinosa MA, Grothe MJ, Macías-García D, Jesús S, Adarmes-Gómez A, Muñoz-Delgado L, Fernández-Rodríguez P, Martín-Rodríguez JF, Huertas I, García-Solís D, Mir P. Labrador-Espinosa MA, et al. Among authors: mir p. Clin Nucl Med. 2021 Jun 1;46(6):e296-e306. doi: 10.1097/RLU.0000000000003609. Clin Nucl Med. 2021. PMID: 33782308
409 results