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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. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
Mc Cartney AM, Mahmoud M, Jochum M, Agustinho DP, Zorman B, Al Khleifat A, Dabbaghie F, K Kesharwani R, Smolka M, Dawood M, Albin D, Aliyev E, Almabrazi H, Arslan A, Balaji A, Behera S, Billingsley K, L Cameron D, Daw J, T Dawson E, De Coster W, Du H, Dunn C, Esteban R, Jolly A, Kalra D, Liao C, Liu Y, Lu TY, M Havrilla J, M Khayat M, Marin M, Monlong J, Price S, Rafael Gener A, Ren J, Sagayaradj S, Sapoval N, Sinner C, C Soto D, Soylev A, Subramaniyan A, Syed N, Tadimeti N, Tater P, Vats P, Vaughn J, Walker K, Wang G, Zeng Q, Zhang S, Zhao T, Kille B, Biederstedt E, Chaisson M, English A, Kronenberg Z, J Treangen T, Hefferon T, Chin CS, Busby B, J Sedlazeck F. Mc Cartney AM, et al. F1000Res. 2021 Mar 26;10:246. doi: 10.12688/f1000research.51477.2. eCollection 2021. F1000Res. 2021. PMID: 34621504 Free PMC article.
Comparison of the King's and MiToS staging systems for ALS.
Fang T, Al Khleifat A, Stahl DR, Lazo La Torre C, Murphy C; Uk-Mnd LicalS; Young C, Shaw PJ, Leigh PN, Al-Chalabi A. Fang T, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):227-232. doi: 10.1080/21678421.2016.1265565. Epub 2017 Jan 5. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 28054828 Free PMC article.
What causes amyotrophic lateral sclerosis?
Martin S, Al Khleifat A, Al-Chalabi A. Martin S, et al. F1000Res. 2017 Mar 28;6:371. doi: 10.12688/f1000research.10476.1. eCollection 2017. F1000Res. 2017. PMID: 28408982 Free PMC article. Review.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group; Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA. Dolzhenko E, et al. Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8. Genome Res. 2017. PMID: 28887402 Free PMC article.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR, Jones AR, Opie-Martin S, Shatunov A, Iacoangeli A, Al Khleifat A, Smith BN, Topp S, Morrison KE, Shaw PJ, Shaw CE, Morgan S, Pittman A, Al-Chalabi A. Mehta PR, et al. J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):268-271. doi: 10.1136/jnnp-2018-319089. Epub 2018 Sep 30. J Neurol Neurosurg Psychiatry. 2019. PMID: 30270202 Free PMC article.
A standard operating procedure for King's ALS clinical staging.
Balendra R, Al Khleifat A, Fang T, Al-Chalabi A. Balendra R, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):159-164. doi: 10.1080/21678421.2018.1556696. Epub 2019 Feb 18. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30773950 Free PMC article.
59 results