Items where authors include "Al Khleifat, A."

Article

Iacoangeli, A. orcid.org/0000-0002-5280-5017, Dilliott, A.A., Al Khleifat, A. et al. (30 more authors) (2025) Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications. Journal of Neurology, Neurosurgery & Psychiatry. ISSN 0022-3050

Saez-Atienzar, S., Souza, C.D.S., Chia, R. et al. (323 more authors) (2024) Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. Cell Genomics, 4 (11). 100679. ISSN 2666-979X

Marriott, H. orcid.org/0000-0003-1231-2880, Spargo, T.P., Al Khleifat, A. orcid.org/0000-0002-7406-9831 et al. (26 more authors) (2024) Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS. Annals of Clinical and Translational Neurology, 11 (7). pp. 1775-1786. ISSN 2328-9503

Taş, G. orcid.org/0009-0008-2409-0246, Westerdijk, T., Postma, E. et al. (87 more authors) (2024) Computing linkage disequilibrium aware genome embeddings using autoencoders. Bioinformatics, 40 (6). btae326. ISSN 1367-4803

Harvey, C., Weinreich, M. orcid.org/0009-0003-1576-3385, Lee, J.A.K. orcid.org/0000-0001-9843-6475 et al. (22 more authors) (2024) Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis. Heliyon, 10 (3). e24975. ISSN 2405-8440

Mehta, P.R. orcid.org/0000-0002-0255-407X, Jones, A.R., Opie-Martin, S. et al. (11 more authors) (2023) Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias. Journal of Neurology, Neurosurgery and Psychiatry, 90 (3). pp. 268-271. ISSN 0022-3050

Adey, B.N., Cooper-Knock, J., Al Khleifat, A. et al. (30 more authors) (2023) Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Frontiers in Cellular Neuroscience, 17. 1112405. ISSN 1662-5102

Balendra, R., Jones, A.R., Al Khleifat, A. et al. (7 more authors) (2023) Comparison of King’s clinical staging in multinational amyotrophic lateral sclerosis cohorts. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 24 (1-2). pp. 71-81. ISSN 2167-8421

Al Khleifat, A., Iacoangeli, A., Jones, A.R. et al. (42 more authors) (2022) Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Frontiers in Cellular Neuroscience, 16. 1050596. ISSN 1662-5102

Mehta, P.R. orcid.org/0000-0002-0255-407X, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Opie-Martin, S. et al. (31 more authors) (2022) The impact of age on genetic testing decisions in amyotrophic lateral sclerosis. Brain, 145 (12). pp. 4440-4447. ISSN 0006-8950

Eitan, C. orcid.org/0000-0001-6952-0336, Siany, A., Barkan, E. et al. (46 more authors) (2022) Whole-genome sequencing reveals that variants in the Interleukin 18 receptor accessory protein 3′UTR protect against ALS. Nature Neuroscience, 25 (4). pp. 433-445. ISSN 1097-6256

Hop, P.J. orcid.org/0000-0002-9007-7436, Zwamborn, R.A.J. orcid.org/0000-0003-3952-5042, Hannon, E. orcid.org/0000-0001-6840-072X et al. (151 more authors) (2022) Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Science Translational Medicine, 14 (633). eabj0264. ISSN 1946-6234

Al Khleifat, A., Iacoangeli, A., van Vugt, J.J.F.A. et al. (44 more authors) (2022) Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. npj Genomic Medicine, 7 (1). 8.

Iacoangeli, A., Al Khleifat, A., Jones, A.R. et al. (10 more authors) (2019) C9orf72 intermediate expansions of 24–30 repeats are associated with ALS. Acta Neuropathologica Communications, 7 (1). 115. ISSN 2051-5960

Farhan, S.M.K., Howrigan, D.P., Abbott, L.E. et al. (32 more authors) (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22 (12). pp. 1966-1974. ISSN 1097-6256

Al Khleifat, A. orcid.org/0000-0002-7406-9831, Iacoangeli, A. orcid.org/0000-0002-5280-5017, Shatunov, A. et al. (11 more authors) (2019) Telomere length is greater in ALS than in controls: a whole genome sequencing study. Amyotroph Lateral Scler Frontotemporal Degener, 20 (3-4). pp. 229-234. ISSN 2167-8421

Project, M.A.S.C., van Rheenen, W., Pulit, S.L. et al. (36 more authors) (2018) 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). pp. 1537-1546. ISSN 1018-4813

Dolzhenko, E., van Vugt, J.J.F.A., Shaw, R.J. et al. (42 more authors) (2017) Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Research , 27. pp. 1895-1903. ISSN 1088-9051

Morgan, S. orcid.org/0000-0002-1734-4710, Shatunov, A., Sproviero, W. et al. (14 more authors) (2017) A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. Brain, 140 (6). pp. 1611-1618. ISSN 0006-8950

Fang, T., Al Khleifat, A., Stahl, D. R. et al. (6 more authors) (2017) Comparison of the King’s and MiToS staging systems for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18 (3-4). pp. 227-232. ISSN 2167-8421