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Page 1
Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.
Tsetsos F, Topaloudi A, Jain P, Yang Z, Yu D, Kolovos P, Tumer Z, Rizzo R, Hartmann A, Depienne C, Worbe Y, Müller-Vahl KR, Cath DC, Boomsma DI, Wolanczyk T, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Padmanabhuni SS, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Yannaki E, Stamatoyannopoulos JA, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Mir P, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Roessner V, Walitza S, Schrag A, Martino D; PGC TS Working Group; TSAICG; TSGeneSEE Initiative; EMTICS Collaborative Group; TS-EUROTRAIN Network; TIC Genetics Collaborative Group; Tischfield JA, Heiman GA, Willsey AJ, Dietrich A, Davis LK, Crowley JJ, Mathews CA, Scharf JM, Georgitsi M, Hoekstra PJ, Paschou P. Tsetsos F, et al. Among authors: mir p. Biol Psychiatry. 2024 Jul 15;96(2):114-124. doi: 10.1016/j.biopsych.2023.01.023. Epub 2023 Feb 2. Biol Psychiatry. 2024. PMID: 36738982
Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, Grice D, Glennon J, Stefansson H, Hengerer B, Benaroya-Milshtein N, Cardona F, Hedderly T, Heyman I, Huyser C, Morer A, Mueller N, Munchau A, Plessen KJ, Porcelli C, Walitza S, Schrag A, Martino D; Psychiatric Genomics Consortium Tourette Syndrome Working Group (PGC-TS); EMTICS collaborative group; Dietrich A; TS-EUROTRAIN Network; Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, Paschou P. Jain P, et al. Among authors: mir p. Transl Psychiatry. 2023 Feb 23;13(1):69. doi: 10.1038/s41398-023-02341-5. Transl Psychiatry. 2023. PMID: 36823209 Free PMC article.
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.
Wang S, Wang B, Drury V, Drake S, Sun N, Alkhairo H, Arbelaez J, Duhn C; Tourette International Collaborative Genetics (TIC Genetics); Bal VH, Langley K, Martin J, Hoekstra PJ, Dietrich A, Xing J, Heiman GA, Tischfield JA, Fernandez TV, Owen MJ, O'Donovan MC, Thapar A, State MW, Willsey AJ. Wang S, et al. Nat Commun. 2023 Dec 6;14(1):8077. doi: 10.1038/s41467-023-43776-0. Nat Commun. 2023. PMID: 38057346 Free PMC article.
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.
Cortical hypometabolism in Parkinson's disease is linked to cholinergic basal forebrain atrophy.
Labrador-Espinosa MA, Silva-Rodriguez J, Okkels N, Muñoz-Delgado L, Horsager J, Castro-Labrador S, Franco-Rosado P, Castellano-Guerrero AM, Iglesias-Camacho E, San-Eufrasio M, Macías-García D, Jesús S, Adarmes-Gómez A, Ojeda-Lepe E, Carrillo F, Martín-Rodríguez JF, Roldan Lora F, García-Solís D, Borghammer P, Mir P, Grothe MJ. Labrador-Espinosa MA, et al. Among authors: mir p. Mol Psychiatry. 2024 Dec 5. doi: 10.1038/s41380-024-02842-9. Online ahead of print. Mol Psychiatry. 2024. PMID: 39639173
X-chromosome-wide association study for Alzheimer's disease.
Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S; EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE; Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, … See abstract for full author list ➔ Le Borgne J, et al. Among authors: mir p. Mol Psychiatry. 2024 Dec 4. doi: 10.1038/s41380-024-02838-5. Online ahead of print. Mol Psychiatry. 2024. PMID: 39633006
Correction: Huntington Disease Health Related Quality of Life, Function and Well Being: The Patient's Perspective.
Pérez-Pérez J, García-López S, Valle TF, Painous C, Querol-Pascual MR, Ruiz PJG, Diago EB, Cubo Delgado E, Pastor BV, Villaplana MCP, Santana IM, Blázquez Estrada M, Garride MC, Mir P, Álvarez C, Maurino J, de Prado A, López-Sendón JL. Pérez-Pérez J, et al. Among authors: mir p. Neurol Ther. 2024 Nov 21. doi: 10.1007/s40120-024-00683-w. Online ahead of print. Neurol Ther. 2024. PMID: 39570476 No abstract available.
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P, Martín-Bórnez M, Muñoz-Delgado L, Díaz-Belloso R, Periñán MT, Bonilla-Toribio M, Buiza-Rueda D, Macías-García D, Jesús S, Adarmes-Gómez A, Ojeda E, Luque-Ambrosiani A, García-Díaz S, Sánchez RP, Carrillo F, Mir P. Gómez-Garre P, et al. Among authors: mir p. Eur J Neurol. 2025 Jan;32(1):e16499. doi: 10.1111/ene.16499. Epub 2024 Nov 5. Eur J Neurol. 2025. PMID: 39498811 Free PMC article.
423 results