Items where authors include "Pinto, S."

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

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

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

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

Westeneng, H.-J., Debray, T.P.A., Visser, A.E. et al. (44 more authors) (2018) Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurology, 17 (5). pp. 423-433. ISSN 1474-4422

McLaughlin, R.L., Schijven, D., van Rheenen, W. et al. (433 more authors) (2017) Genetic correlation between amyotrophic lateral sclerosis and schizophrenia. Nature Communications, 8. 14774.