Items where authors include "de Carvalho, M."

Article

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

Gwathmey, K.G. orcid.org/0000-0002-7589-8826, Corcia, P., McDermott, C.J. orcid.org/0000-0002-1269-9053 et al. (4 more authors) (2023) Diagnostic delay in amyotrophic lateral sclerosis. European Journal of Neurology, 30 (9). pp. 2595-2601. ISSN 1351-5101

Van Daele, S.H. orcid.org/0000-0002-3005-3619, Moisse, M., van Vugt, J.J.F.A. orcid.org/0000-0002-4161-4004 et al. (31 more authors) (2023) Genetic variability in sporadic amyotrophic lateral sclerosis. Brain, 146 (9). pp. 3760-3769. ISSN 0006-8950

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

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

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.

Alix, J.J.P., Neuwirth, C., Gelder, L. et al. (20 more authors) (2019) Assessment of the reliability of the motor unit size index (MUSIX) in single subject “round-robin” and multi-centre settings. Clinical Neurophysiology, 130 (5). pp. 666-674. ISSN 1388-2457

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

Al-Chalabi, A. orcid.org/0000-0002-4924-7712, Andersen, P.M., Chandran, S. et al. (38 more authors) (2017) July 2017 ENCALS statement on edaravone. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 18 (7-8). pp. 471-474. ISSN 2167-8421

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.

Neuwirth, C., Burkhardt, C., Alix, J. orcid.org/0000-0001-8391-9749 et al. (10 more authors) (2016) Quality Control of Motor Unit Number Index (MUNIX) Measurements in 6 Muscles in a Single-Subject “Round-Robin” Setup. PLOS ONE, 11 (5). e0153948-e0153948. ISSN 1932-6203

Oeckl, P., Jardel, C., Salachas, F. et al. (32 more authors) (2016) Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. pp. 1-10. ISSN 2167-8421

Turner, M.R., Hardiman, O., Benatar, M. et al. (17 more authors) (2013) Controversies and priorities in amyotrophic lateral sclerosis. The Lancet Neurology, 12 (3). pp. 310-322. ISSN 1474-4422