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Page 1
Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.
Grant OA, Iacoangeli A, Zwamborn RAJ, van Rheenen W, Byrne R, Van Eijk KR, Kenna K, van Vugt JJFA, Cooper-Knock J, Kenna B, Vural A, Topp S, Campos Y, Weber M, Smith B, Dobson R, van Es MA, Vourc'h P, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Mill J, Garton F, McRae A, Wray NR, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Van Damme P, McLaughlin RL, van den Berg LH, Veldink JH, Al-Chalabi A, Al Khleifat A. Grant OA, et al. Among authors: shaw ce. bioRxiv [Preprint]. 2024 Nov 25:2024.11.22.624866. doi: 10.1101/2024.11.22.624866. bioRxiv. 2024. PMID: 39651197 Free PMC article. Preprint.
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. Among authors: shaw ce. 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: shaw ce. 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.
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: shaw ce. Nat Commun. 2024 Jul 2;15(1):5560. doi: 10.1038/s41467-024-49938-y. Nat Commun. 2024. PMID: 38956107 Free PMC article. No abstract available.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H, Spargo TP, Al Khleifat A, Andersen PM, Başak NA, Cooper-Knock J, Corcia P, Couratier P, de Carvalho M, Drory V, Gotkine M, Landers JE, McLaughlin R, Pardina JSM, Morrison KE, Pinto S, Shaw CE, Shaw PJ, Silani V, Ticozzi N, van Damme P, van den Berg LH, Vourc'h P, Weber M, Veldink JH; Project MinE ALS Sequencing Consortium; Dobson RJ, Schwab P, Al-Chalabi A, Iacoangeli A. Marriott H, et al. Among authors: shaw ce. Ann Clin Transl Neurol. 2024 Jul;11(7):1775-1786. doi: 10.1002/acn3.52083. Epub 2024 May 22. Ann Clin Transl Neurol. 2024. PMID: 38775181 Free PMC article.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Thumbadoo KM, Dieriks BV, Murray HC, Swanson MEV, Yoo JH, Mehrabi NF, Turner C, Dragunow M, Faull RLM, Curtis MA, Siddique T, Shaw CE, Newell KL, Henden L, Williams KL, Nicholson GA, Scotter EL. Thumbadoo KM, et al. Among authors: shaw ce. Brain. 2024 Oct 3;147(10):3547-3561. doi: 10.1093/brain/awae140. Brain. 2024. PMID: 38703371 Free PMC article.
International consensus is needed on a core outcome set to advance the evidence of best practice in cancer prehabilitation services and research.
Myers AM, Barlow RC, Baldini G, Campbell AM, Carli F, Carr EJ, Collyer T, Danjoux G, Davis JF, Denehy L, Durrand J, Gillis C, Greenfield DM, Griffiths SP, Grocott M, Humphreys L, Jack S, Keen C, Levett DZH, Merchant Z, Moore J, Moug S, Ricketts W, Santa Mina D, Saxton JM, Shaw CE, Tew GA, Thelwell M, West MA, Copeland RJ. Myers AM, et al. Among authors: shaw ce. Br J Anaesth. 2024 May;132(5):851-856. doi: 10.1016/j.bja.2024.02.021. Epub 2024 Mar 23. Br J Anaesth. 2024. PMID: 38522964
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C, Hedges EC, Allison J, Lee YB, Arias N, Cocks G, Chandran S, Ruepp MD, Shaw CE, Nishimura AL. Shum C, et al. Among authors: shaw ce. Stem Cell Reports. 2024 Feb 13;19(2):187-195. doi: 10.1016/j.stemcr.2023.12.007. Epub 2024 Jan 18. Stem Cell Reports. 2024. PMID: 38242131 Free PMC article.
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Spargo TP, Opie-Martin S, Hunt GP, Kalia M, Al Khleifat A, Topp SD, Shaw CE, Al-Chalabi A, Iacoangeli A; Project Mine ALS Sequencing Consortium. Spargo TP, et al. Among authors: shaw ce. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug 3:1-10. doi: 10.1080/21678421.2023.2236650. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37534756
326 results