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Page 1
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: mir p. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2.
García-Ramos R, Santos-García D, Alonso-Cánovas A, Álvarez-Sauco M, Ares B, Ávila A, Caballol N, Carrillo F, Escamilla Sevilla F, Freire E, Gómez Esteban JC, Legarda I, López Manzanares L, López Valdés E, Martínez-Torres I, Mata M, Pareés I, Pascual-Sedano B, Martínez Castrillo JC, Mir P. García-Ramos R, et al. Among authors: mir p. Neurologia (Engl Ed). 2021 Mar;36(2):159-168. doi: 10.1016/j.nrl.2020.05.012. Epub 2020 Sep 24. Neurologia (Engl Ed). 2021. PMID: 32980194 Free article. Review. English, Spanish.
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.
[Functional neuroimaging in the diagnosis of patients with Parkinsonism: Update and recommendations for clinical use].
Arbizu J, Luquin MR, Abella J, de la Fuente-Fernández R, Fernandez-Torrón R, García-Solís D, Garrastachu P, Jiménez-Hoyuela JM, Llaneza M, Lomeña F, Lorenzo-Bosquet C, Martí MJ, Martinez-Castrillo JC, Mir P, Mitjavila M, Ruiz-Martínez J, Vela L. Arbizu J, et al. Among authors: mir p. Rev Esp Med Nucl Imagen Mol. 2014 Jul-Aug;33(4):215-26. doi: 10.1016/j.remn.2014.02.001. Epub 2014 Apr 14. Rev Esp Med Nucl Imagen Mol. 2014. PMID: 24731551 Review. Spanish.
BDNF Val66Met polymorphism in primary adult-onset dystonia: a case-control study and meta-analysis.
Gómez-Garre P, Huertas-Fernández I, Cáceres-Redondo MT, Alonso-Canovas A, Bernal-Bernal I, Blanco-Ollero A, Bonilla-Toribio M, Burguera JA, Carballo M, Carrillo F, Catalán-Alonso MJ, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Caldentey J, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, Jesús S, López-Valdés E, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Méndez-Lucena C, Mínguez-Castellanos A, Moya M, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Vargas-González L, Mir P. Gómez-Garre P, et al. Among authors: mir p. Mov Disord. 2014 Jul;29(8):1083-6. doi: 10.1002/mds.25938. Epub 2014 Jun 12. Mov Disord. 2014. PMID: 24925604
Lack of validation of variants associated with cervical dystonia risk: a GWAS replication study.
Gómez-Garre P, Huertas-Fernández I, Cáceres-Redondo MT, Alonso-Canovas A, Bernal-Bernal I, Blanco-Ollero A, Bonilla-Toribio M, Burguera JA, Carballo M, Carrillo F, José Catalán-Alonso M, Escamilla-Sevilla F, Espinosa-Rosso R, Carmen Fernández-Moreno M, García-Caldentey J, García-Moreno JM, Giacometti-Silveira S, Gutiérrez-García J, Jesús-Maestre S, López-Valdés E, Martínez-Castrillo JC, Medialdea-Natera MP, Méndez-Lucena C, Mínguez-Castellanos A, Angel Moya M, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Rubio-Agusti I, Sillero-Sánchez M, Del Val J, Vargas-González L, Mir P. Gómez-Garre P, et al. Among authors: mir p. Mov Disord. 2014 Dec;29(14):1825-8. doi: 10.1002/mds.26044. Epub 2014 Sep 25. Mov Disord. 2014. PMID: 25256078
Analysis of shared heritability in common disorders of the brain.
Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinge… See abstract for full author list ➔ Brainstorm Consortium, et al. Among authors: mir p. Science. 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757. Science. 2018. PMID: 29930110 Free PMC article.
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Bandres-Ciga S, Ahmed S, Sabir MS, Blauwendraat C, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Méndez-Del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Vargas-González L, Diez-Fairen M, Alvarez I, Tartari JP, Buongiorno M, Aguilar M, Gorostidi A, Bergareche JA, Mondragon E, Vinagre-Aragon A, Croitoru I, Ruiz-Martínez J, Dols-Icardo O, Kulisevsky J, Marín-Lahoz J, Pagonabarraga J, Pascual-Sedano B, Ezquerra M, Cámara A, Compta Y, Fernández M, Fernández-Santiago R, Muñoz E, Tolosa E, Valldeoriola F, Gonzalez-Aramburu I, Sanchez Rodriguez A, Sierra M, Menéndez-González M, Blazquez M, Garcia C, Suarez-San Martin E, García-Ruiz P, Martínez-Castrillo JC, Vela-Desojo L, Ruz C, Barrero FJ, Escamilla-Sevilla F, Mínguez-Castellanos A, Cerdan D, Tabernero C, Gomez Heredia MJ, Perez Errazquin F, Romero-Acebal M, Feliz C, Lopez-Sendon JL, Mata M, Martínez Torres I, Kim JJ, Dalgard CL; American Genome Center; Brooks J, Saez-Atienzar S, Gibbs JR, Jorda R, Botia JA, Bonet-Ponce L, Morrison KE, Clarke C, Tan M, Morris H, Edsall C, Hernandez D, Simon-Sanchez J, Nalls MA, Scholz SW, Jimenez-… See abstract for full author list ➔ Bandres-Ciga S, et al. Among authors: mir p. Mov Disord. 2019 Dec;34(12):1851-1863. doi: 10.1002/mds.27864. Epub 2019 Oct 29. Mov Disord. 2019. PMID: 31660654 Free PMC article.
Management of Parkinson's disease and other movement disorders in woman of childbearing age: Part 1.
García-Ramos R, Santos-García D, Alonso-Cánovas A, Álvarez-Sauco M, Ares B, Ávila A, Caballol N, Carrillo F, Escamilla Sevilla F, Freire E, Gómez Esteban JC, Legarda I, López Manzanares L, López Valdés E, Martínez-Torres I, Mata M, Pareés I, Pascual-Sedano B, Mir P, Martínez Castrillo JC. García-Ramos R, et al. Among authors: mir p. Neurologia (Engl Ed). 2021 Mar;36(2):149-158. doi: 10.1016/j.nrl.2020.05.010. Epub 2020 Jul 24. Neurologia (Engl Ed). 2021. PMID: 32718872 Free article. English, Spanish.
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P. Gómez-Garre P, et al. Among authors: mir p. Eur J Neurol. 2021 Apr;28(4):1188-1197. doi: 10.1111/ene.14638. Epub 2020 Dec 6. Eur J Neurol. 2021. PMID: 33175450
408 results