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465 results

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Page 1
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Benjamin-Zukerman T, Shimon G, Gaine ME, Dakwar A, Peled N, Aboraya M, Masri-Ismail A, Safadi-Safa R, Solomon M, Lev-Ram V, Rissman RA, Mayrhofer JE, Raffeiner A, Mol MO, Argue BMR, McCool S, Doan B, van Swieten J, Stefan E, Abel T, Ilouz R. Benjamin-Zukerman T, et al. Among authors: van swieten j. Brain. 2024 Nov 4;147(11):3890-3905. doi: 10.1093/brain/awae154. Brain. 2024. PMID: 38743596 Free PMC article.
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Ta… See abstract for full author list ➔ Pottier C, et al. Among authors: van blitterswijk m, van swieten jc, van rooij jg, van deerlin v, van de walle p. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network. Quadri M, et al. Among authors: van de berg wdj, van ijcken wfj, van swieten jc. Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Lancet Neurol. 2018. PMID: 29887161
Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Nat Commun. 2024 Sep 9;15(1):7880. doi: 10.1038/s41467-024-52025-x. Nat Commun. 2024. PMID: 39251599 Free PMC article.
Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.
De Houwer JFH, Dopper EGP, Rajicic A, van Buuren R, Arcaro M, Galimberti D, Breedveld GJ, Wilke M, van Minkelen R, Jiskoot LC, van Swieten JC, Donker Kaat L, Seelaar H. De Houwer JFH, et al. Among authors: van swieten jc. J Neurol. 2024 Dec 16;272(1):64. doi: 10.1007/s00415-024-12758-7. J Neurol. 2024. PMID: 39680222 Free PMC article.
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, García-… See abstract for full author list ➔ Le Borgne J, et al. Among authors: van swieten j. Mol Psychiatry. 2024 Dec 4. doi: 10.1038/s41380-024-02838-5. Online ahead of print. Mol Psychiatry. 2024. PMID: 39633006
Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes.
Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Höglinger GU, Müller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH; PSP Genetics Study Group; Crary JF, Naj A. Farrell K, et al. Nat Commun. 2024 Nov 13;15(1):9828. doi: 10.1038/s41467-024-53617-3. Nat Commun. 2024. PMID: 39537593 Free PMC article. No abstract available.
Association of Changes in Cerebral and Hypothalamic Structure With Sleep Dysfunction in Patients With Genetic Frontotemporal Dementia.
Best PT, Van Swieten JC, Jiskoot LC, Moreno F, Sánchez-Valle R, Laforce R Jr, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler C, Gerhard A, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Seelaar H, Bouzigues A, Cash DM, Russell LL, Bocchetta M, Rohrer JD, Devenyi GA, Chakravarty M, Ducharme S; Genetic Frontotemporal Dementia Initiative (GENFI). Best PT, et al. Among authors: van swieten jc. Neurology. 2024 Dec 10;103(11):e209829. doi: 10.1212/WNL.0000000000209829. Epub 2024 Nov 11. Neurology. 2024. PMID: 39527773
Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia.
Borrego-Ecija S, Juncà-Parella J, Vandebergh M, Pérez Millan A, Balasa M, Llado A, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rademakers R, Rohrer JD, Sánchez-Valle R; Genetic Frontotemporal Initiative (GENFI). Borrego-Ecija S, et al. Among authors: van swieten jc. Neurology. 2024 Dec 10;103(11):e209944. doi: 10.1212/WNL.0000000000209944. Epub 2024 Nov 11. Neurology. 2024. PMID: 39527772 Free PMC article.
465 results