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Year Number of Results
2014 5
2015 13
2016 8
2017 5
2018 8
2019 13
2020 11
2021 10
2022 4
2024 0

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64 results

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Page 1
Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.
Thompson AG, Gray E, Verber N, Bobeva Y, Lombardi V, Shepheard SR, Yildiz O, Feneberg E, Farrimond L, Dharmadasa T, Gray P, Edmond EC, Scaber J, Gagliardi D, Kirby J, Jenkins TM, Fratta P, McDermott CJ, Manohar SG, Talbot K, Malaspina A, Shaw PJ, Turner MR. Thompson AG, et al. Brain Commun. 2022 Feb 9;4(1):fcac029. doi: 10.1093/braincomms/fcac029. eCollection 2022. Brain Commun. 2022. PMID: 35224491 Free PMC article.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J; ALS Biomarker Consortium; CReATe Consortium; Benatar M, Malaspina A. Puentes F, et al. Ann Clin Transl Neurol. 2021 Sep;8(9):1831-1844. doi: 10.1002/acn3.51428. Epub 2021 Jul 27. Ann Clin Transl Neurol. 2021. PMID: 34318620 Free PMC article.
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P. Birsa N, et al. Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. Print 2021 Jul. Sci Adv. 2021. PMID: 34290090 Free PMC article.
64 results