Detection of long repeat expansions from PCR-free whole-genome sequence data E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ... Genome research 27 (11), 1895-1903, 2017 | 327 | 2017 |
A multicentre validation study of the diagnostic value of plasma neurofilament light NJ Ashton, S Janelidze, A Al Khleifat, A Leuzy, EL van der Ende, ... Nature communications 12 (1), 3400, 2021 | 296 | 2021 |
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ... Nature genetics 53 (12), 1636-1648, 2021 | 294 | 2021 |
Stage at which riluzole treatment prolongs survival in patients with amyotrophic lateral sclerosis: a retrospective analysis of data from a dose-ranging study T Fang, A Al Khleifat, JH Meurgey, A Jones, PN Leigh, G Bensimon, ... The Lancet Neurology 17 (5), 416-422, 2018 | 254 | 2018 |
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation JL Min, G Hemani, E Hannon, KF Dekkers, J Castillo-Fernandez, R Luijk, ... Nature genetics 53 (9), 1311-1321, 2021 | 241 | 2021 |
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis European Journal of Human Genetics 26 (10), 1537-1546, 2018 | 136 | 2018 |
What causes amyotrophic lateral sclerosis? S Martin, A Al Khleifat, A Al-Chalabi F1000Research 6, 2017 | 127 | 2017 |
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein SMK Farhan, DP Howrigan, LE Abbott, JR Klim, SD Topp, AE Byrnes, ... Nature neuroscience 22 (12), 1966-1974, 2019 | 116 | 2019 |
C9orf72 intermediate expansions of 24–30 repeats are associated with ALS A Iacoangeli, A Al Khleifat, AR Jones, W Sproviero, A Shatunov, ... Acta neuropathologica communications 7, 1-7, 2019 | 105 | 2019 |
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK S Morgan, A Shatunov, W Sproviero, AR Jones, M Shoai, D Hughes, ... Brain 140 (6), 1611-1618, 2017 | 98 | 2017 |
Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial N Riva, G Mora, G Sorarù, C Lunetta, OE Ferraro, Y Falzone, L Leocani, ... The Lancet Neurology 18 (2), 155-164, 2019 | 95 | 2019 |
Comparison of the King’s and MiToS staging systems for ALS T Fang, A Al Khleifat, DR Stahl, C Lazo La Torre, C Murphy, ... Amyotrophic lateral sclerosis and frontotemporal degeneration 18 (3-4), 227-232, 2017 | 90 | 2017 |
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias PR Mehta, AR Jones, S Opie-Martin, A Shatunov, A Iacoangeli, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (3), 268-271, 2019 | 63 | 2019 |
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis JO Johnson, R Chia, DE Miller, R Li, R Kumaran, Y Abramzon, ... JAMA neurology 78 (10), 1236-1248, 2021 | 60 | 2021 |
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ... Science translational medicine 14 (633), eabj0264, 2022 | 52 | 2022 |
Genome-wide meta-analysis finds the ACSL5-ZDHHC6 locus is associated with ALS and links weight loss to the disease genetics A Iacoangeli, T Lin, A Al Khleifat, AR Jones, S Opie-Martin, JRI Coleman, ... Cell Reports 33 (4), 2020 | 50 | 2020 |
A standard operating procedure for King’s ALS clinical staging R Balendra, A Al Khleifat, T Fang, A Al-Chalabi Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20 (3-4), 159-164, 2019 | 45 | 2019 |
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis A Al Khleifat, A Iacoangeli, JJFA Van Vugt, H Bowles, M Moisse, ... NPJ genomic medicine 7 (1), 8, 2022 | 35 | 2022 |
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis PR Mehta, A Iacoangeli, S Opie-Martin, JJFA van Vugt, A Al Khleifat, ... Brain 145 (12), 4440-4447, 2022 | 28 | 2022 |
Whole-genome sequencing reveals that variants in the interleukin 18 receptor accessory protein 3′ UTR protect against ALS C Eitan, A Siany, E Barkan, T Olender, KR van Eijk, M Moisse, ... Nature neuroscience 25 (4), 433-445, 2022 | 27 | 2022 |