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Page 1
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, Tartaglia MC, Finger EC… See abstract for full author list ➔ Pottier C, et al. Among authors: zinman l. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Single-nucleus multiomic atlas of frontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms.
McKeever PM, Sababi AM, Sharma R, Khuu N, Xu Z, Shen SY, Xiao S, McGoldrick P, Orouji E, Ketela T, Sato C, Moreno D, Visanji N, Kovacs GG, Keith J, Zinman L, Rogaeva E, Goodarzi H, Bader GD, Robertson J. McKeever PM, et al. Among authors: zinman l. bioRxiv [Preprint]. 2023 Dec 23:2023.12.22.573083. doi: 10.1101/2023.12.22.573083. bioRxiv. 2023. PMID: 38187588 Free PMC article. Preprint.
C9orf72 expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, Mckeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: zinman l. bioRxiv [Preprint]. 2024 Oct 29:2024.10.26.620312. doi: 10.1101/2024.10.26.620312. bioRxiv. 2024. Update in: NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019 PMID: 39569145 Free PMC article. Updated. Preprint.
C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.
Mirceta M, Schmidt MHM, Shum N, Prasolava TK, Meikle B, Lanni S, Mohiuddin M, McKeever PM, Zhang M, Liang M, van der Werf I, Scheers S, Dion PA, Wang P, Wilson MD, Abell T, Philips EA, Sznajder ŁJ, Swanson MS, Mehkary M, Khan M, Yokoi K, Jung C, de Jong PJ, Freudenreich CH, McGoldrick P, Yuen RKC, Abrahão A, Keith J, Zinman L, Robertson J, Rogaeva E, Rouleau GA, Kooy RF, Pearson CE. Mirceta M, et al. Among authors: zinman l. NAR Mol Med. 2024 Nov 12;1(4):ugae019. doi: 10.1093/narmme/ugae019. eCollection 2024 Oct. NAR Mol Med. 2024. PMID: 39669124 Free PMC article.
Homocysteine, neurodegenerative biomarkers, and APOE ε4 in neurodegenerative diseases.
Lin WZ, Yu D, Xiong LY, Zebarth J, Wang R, Fischer CE, Rajji TK, Tang-Wai DF, Tartaglia C, Saposnik G, Swartz RH, Grimes DA, Lang AE, Hegele RA, Farhan S, Ramirez J, Symons S, Goubran M, Binns MA, Lou W, Dixon RA, Orange JB, Roberts AC, Troyer AK, Zetterberg H, Herrmann N, Rabin JS, MacIntosh BJ, Masellis M, Lanctôt KL, Black SE, Swardfager W; ONDRI Investigators. Lin WZ, et al. Alzheimers Dement. 2024 Nov 19. doi: 10.1002/alz.14376. Online ahead of print. Alzheimers Dement. 2024. PMID: 39559926
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free PMC article.
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study.
van den Berg LH, Rothstein JD, Shaw PJ, Babu S, Benatar M, Bucelli RC, Genge A, Glass JD, Hardiman O, Libri V, Mobach T, Oskarsson B, Pattee GL, Ravits J, Shaw CE, Weber M, Zinman L, Jafar-Nejad P, Rigo F, Lin L, Ferguson TA, Gotter AL, Graham D, Monine M, Inra J, Sinks S, Eraly S, Garafalo S, Fradette S. van den Berg LH, et al. Among authors: zinman l. Lancet Neurol. 2024 Sep;23(9):901-912. doi: 10.1016/S1474-4422(24)00216-3. Epub 2024 Jul 23. Lancet Neurol. 2024. PMID: 39059407 Clinical Trial.
Temporal and spatial progression of microstructural cerebral degeneration in ALS: A multicentre longitudinal diffusion tensor imaging study.
Müller HP, Abrahao A, Beaulieu C, Benatar M, Dionne A, Genge A, Frayne R, Graham SJ, Gibson S, Korngut L, Luk C, Welsh RC, Zinman L, Kassubek J, Kalra S. Müller HP, et al. Among authors: zinman l. Neuroimage Clin. 2024;43:103633. doi: 10.1016/j.nicl.2024.103633. Epub 2024 Jun 14. Neuroimage Clin. 2024. PMID: 38889523 Free PMC article.
Publisher Correction: The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology.
Benatar M, Wuu J, Huey ED, McMillan CT, Petersen RC, Postuma R, McHutchison C, Dratch L, Arias JJ, Crawley A, Houlden H, McDermott MP, Cai X, Thakur N, Boxer A, Rosen H, Boeve BF, Dacks P, Cosentino S, Abrahams S, Shneider N, Lingor P, Shefner J, Andersen PM, Al-Chalabi A, Turner MR; Attendees of the Second International Pre-Symptomatic ALS Workshop. Benatar M, et al. Nat Rev Neurol. 2024 Jun;20(6):377. doi: 10.1038/s41582-024-00978-4. Nat Rev Neurol. 2024. PMID: 38811858 No abstract available.
269 results