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Items: 12

1.

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM.

Nat Neurosci. 2019 Dec;22(12):1966-1974. doi: 10.1038/s41593-019-0530-0. Epub 2019 Nov 25. Erratum in: Nat Neurosci. 2019 Dec 19;:.

2.

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.

Iacoangeli A, Al Khleifat A, Jones AR, Sproviero W, Shatunov A, Opie-Martin S; Alzheimer’s Disease Neuroimaging Initiative, Morrison KE, Shaw PJ, Shaw CE, Fogh I, Dobson RJ, Newhouse SJ, Al-Chalabi A.

Acta Neuropathol Commun. 2019 Jul 17;7(1):115. doi: 10.1186/s40478-019-0724-4.

3.

DNAscan: personal computer compatible NGS analysis, annotation and visualisation.

Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Morgan SL, Pittman A, Dobson RJ, Newhouse SJ, Al-Chalabi A.

BMC Bioinformatics. 2019 Apr 27;20(1):213. doi: 10.1186/s12859-019-2791-8.

4.

Telomere length is greater in ALS than in controls: a whole genome sequencing study.

Al Khleifat A, Iacoangeli A, Shatunov A, Fang T, Sproviero W, Jones AR, Opie-Martin S, Morrison KE, Shaw PJ, Shaw CE, Powell JF, Dobson R, Newhouse SJ, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):229-234. doi: 10.1080/21678421.2019.1586951. Epub 2019 Apr 1.

5.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Opie-Martin S, Naselli E, Topp SD, Fogh I, Hodges A, Dobson RJ, Newhouse SJ, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):207-215. doi: 10.1080/21678421.2018.1562553. Epub 2019 Mar 5.

6.

A standard operating procedure for King's ALS clinical staging.

Balendra R, Al Khleifat A, Fang T, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):159-164. doi: 10.1080/21678421.2018.1556696. Epub 2019 Feb 18.

7.

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.

J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):268-271. doi: 10.1136/jnnp-2018-319089. Epub 2018 Sep 30.

8.

Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study.

Fang T, Al Khleifat A, Meurgey JH, Jones A, Leigh PN, Bensimon G, Al-Chalabi A.

Lancet Neurol. 2018 May;17(5):416-422. doi: 10.1016/S1474-4422(18)30054-1. Epub 2018 Mar 7.

9.

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.

Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.

10.

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

Morgan S, Shatunov A, Sproviero W, Jones AR, Shoai M, Hughes D, Al Khleifat A, Malaspina A, Morrison KE, Shaw PJ, Shaw CE, Sidle K, Orrell RW, Fratta P, Hardy J, Pittman A, Al-Chalabi A.

Brain. 2017 Jun 1;140(6):1611-1618. doi: 10.1093/brain/awx082.

11.

What causes amyotrophic lateral sclerosis?

Martin S, Al Khleifat A, Al-Chalabi A.

F1000Res. 2017 Mar 28;6:371. doi: 10.12688/f1000research.10476.1. eCollection 2017. Review.

12.

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.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):227-232. doi: 10.1080/21678421.2016.1265565. Epub 2017 Jan 5.

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