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115 results

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Page 1
Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration.
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber DE, Staffaroni AM, Geschwind DH, Wolf AA, Kantarci K, Gendron T, Petrucelli L, Van den Broeck M, Wynants S, Baker M, Borrego-Écija S, Appleby B, Barmada S, Bozoki AC, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko D, Ghoshal N, Graff-Radford NR, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin DJ, Knopman DS, Kwan JY, Léger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman PS, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R; ALLFTD Consortium. Vandebergh M, et al. Among authors: kwan jy. Neurology. 2024 Oct 22;103(8):e209832. doi: 10.1212/WNL.0000000000209832. Epub 2024 Sep 25. Neurology. 2024. PMID: 39321401 Free PMC article.
Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration.
Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL; ALLFTD Consortium. Staffaroni AM, et al. JAMA Netw Open. 2024 Apr 1;7(4):e244266. doi: 10.1001/jamanetworkopen.2024.4266. JAMA Netw Open. 2024. PMID: 38558141 Free PMC article.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson KR, Reed X, Johnson NL, Kollasch AW, Duffy MF, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Marks DS, Yokoyama JS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: kwan jy. Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. Epub 2024 Jun 26. Alzheimers Dement. 2024. PMID: 38923692 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson K, Reed X, Johnson NL, Kollasch AW, Duffy M, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Yokoyama JS, Marks DS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Among authors: kwan jy. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. Update in: Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. PMID: 37886540 Free PMC article. Updated. Preprint.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: kwan jy. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467 Free PMC article.
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: kwan jy. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. PMID: 36747793 Free PMC article. Updated. Preprint.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort.
Leonhard SE, van der Eijk AA, Andersen H, Antonini G, Arends S, Attarian S, Barroso FA, Bateman KJ, Batstra MR, Benedetti L, van den Berg B, Van den Bergh P, Bürmann J, Busby M, Casasnovas C, Cornblath DR, Davidson A, Doets AY, van Doorn PA, Dornonville de la Cour C, Feasby TE, Fehmi J, Garcia-Sobrino T, Goldstein JM, Gorson KC, Granit V, Hadden RDM, Harbo T, Hartung HP, Hasan I, Holbech JV, Holt JKL, Jahan I, Islam Z, Karafiath S, Katzberg HD, Kleyweg RP, Kolb N, Kuitwaard K, Kuwahara M, Kusunoki S, Luijten LWG, Kuwabara S, Lee Pan E, Lehmann HC, Maas M, Martín-Aguilar L, Miller JAL, Mohammad QD, Monges S, Nedkova-Hristova V, Nobile-Orazio E, Pardo J, Pereon Y, Querol L, Reisin R, Van Rijs W, Rinaldi S, Roberts RC, Roodbol J, Shahrizaila N, Sindrup SH, Stein B, Cheng-Yin T, Tankisi H, Tio-Gillen AP, Sedano Tous MJ, Verboon C, Vermeij FH, Visser LH, Huizinga R, Willison HJ, Jacobs BC; IGOS Consortium. Leonhard SE, et al. Neurology. 2022 Sep 20;99(12):e1299-e1313. doi: 10.1212/WNL.0000000000200885. Epub 2022 Aug 18. Neurology. 2022. PMID: 35981895
115 results