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Page 1
Cleaved TMEM106B forms amyloid aggregates in central and peripheral nervous systems.
Bacioglu M, Schweighauser M, Gray D, Lövestam S, Katsinelos T, Quaegebeur A, van Swieten J, Jaunmuktane Z, Davies SW, Scheres SHW, Goedert M, Ghetti B, Spillantini MG. Bacioglu M, et al. Among authors: van swieten j. Acta Neuropathol Commun. 2024 Jun 17;12(1):99. doi: 10.1186/s40478-024-01813-z. Acta Neuropathol Commun. 2024. PMID: 38886865 Free PMC article.
Correction: Cleaved TMEM106B forms amyloid aggregates in central and peripheral nervous systems.
Bacioglu M, Bacioglu M, Gray D, Lövestam S, Katsinelos T, Quaegebeur A, van Swieten J, Jaunmuktane Z, Davies SW, Scheres SHW, Goedert M, Ghetti B, Spillantini MG. Bacioglu M, et al. Among authors: van swieten j. Acta Neuropathol Commun. 2024 Aug 14;12(1):131. doi: 10.1186/s40478-024-01842-8. Acta Neuropathol Commun. 2024. PMID: 39138552 Free PMC article. No abstract available.
Novel tau filament folds in individuals with MAPT mutations P301L and P301T.
Schweighauser M, Shi Y, Murzin AG, Garringer HJ, Vidal R, Murrell JR, Erro ME, Seelaar H, Ferrer I, van Swieten JC, Ghetti B, Scheres SHW, Goedert M. Schweighauser M, et al. Among authors: van swieten jc. bioRxiv [Preprint]. 2024 Aug 17:2024.08.15.608062. doi: 10.1101/2024.08.15.608062. bioRxiv. 2024. PMID: 39185206 Free PMC article. Preprint.
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes.
Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Alex R, Paul De Deyn P, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, G de Yébenes J, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Ber IL, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS; PSP genetics study group; Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP. Wang H, et al. Among authors: van swieten jc, van deerlin vm. medRxiv [Preprint]. 2024 Feb 28:2024.02.26.24303379. doi: 10.1101/2024.02.26.24303379. medRxiv. 2024. PMID: 38464214 Free PMC article. Preprint.
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