Items where authors include "Rouleau, G.A."

Article

Demaegd, K.C. orcid.org/0000-0001-9606-0531, Kernan, A. orcid.org/0009-0001-3168-1262, Cooper-Knock, J. orcid.org/0000-0002-0873-8689 et al. (27 more authors) (2025) An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2. European Journal of Human Genetics. ISSN 1018-4813

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

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

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

Gilley, J., Jackson, O., Pipis, M. et al. (19 more authors) (2021) Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife, 10. e70905. ISSN 2050-084X

Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M. et al. (92 more authors) (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

Smith, B.N., Ticozzi, N., Fallini, C. et al. (63 more authors) (2014) Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS. Neuron, 84 (2). pp. 324-331. ISSN 0896-6273