Items where authors include "Moll, T."

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

Harvey, C., Nowak, A., Zhang, S. et al. (13 more authors) (2025) Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons. BMC Medical Genomics, 18. 10. ISSN 1755-8794

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

Cooper‐Knock, J., Julian, T.H., Feneberg, E. et al. (15 more authors) (2023) Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP. Brain Pathology, 33 (1). e13104. ISSN 1015-6305

Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120, Moll, T. et al. (17 more authors) (2022) Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis. Brain Communications, 4 (2). fcac069. ISSN 2632-1297

Zhang, S., Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Weimer, A.K. et al. (23 more authors) (2022) Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis. Neuron, 110 (6). pp. 992-1008. ISSN 0896-6273

Julian, T.H. orcid.org/0000-0002-5488-5620, Boddy, S., Islam, M. orcid.org/0000-0002-2296-0120 et al. (9 more authors) (2022) A review of Mendelian randomization in amyotrophic lateral sclerosis. Brain, 145 (3). pp. 832-842. ISSN 0006-8950

Moll, T., Marshall, J.N.G., Soni, N. et al. (3 more authors) (2021) Membrane lipid raft homeostasis is directly linked to neurodegeneration. Essays in Biochemistry, 65 (7). pp. 999-1011. ISSN 0071-1365

Cooper-Knock, J. orcid.org/0000-0002-0873-8689, Harvey, C. orcid.org/0000-0001-5033-9385, Zhang, S. et al. (5 more authors) (2021) Advances in the genetic classification of amyotrophic lateral sclerosis. Current Opinion in Neurology, 34 (5). pp. 756-764. ISSN 1350-7540

Julian, T.H. orcid.org/0000-0002-5488-5620, Glascow, N., Barry, A.D.F. et al. (8 more authors) (2021) Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes. EBioMedicine, 68. 103397. ISSN 2352-3964

Ghahremani Nezhad, H., Franklin, J.P., Alix, J.J.P. orcid.org/0000-0001-8391-9749 et al. (10 more authors) (2020) Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 22 (7-8). pp. 579-582. ISSN 2167-8421

Franklin, J.P., Cooper-Knock, J., Baheerathan, A. et al. (6 more authors) (2020) Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 21 (7-8). pp. 627-630. ISSN 2167-8421

Moll, T., Shaw, P.J. orcid.org/0000-0002-8925-2567 and Cooper-Knock, J. orcid.org/0000-0002-0873-8689 (2020) Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration. Brain, 143 (5). pp. 1332-1340. ISSN 0006-8950

Cooper-Knock, J., Moll, T., Ramesh, T. et al. (26 more authors) (2019) Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis. Cell Reports, 26 (9). 2298-2306.e5. ISSN 2211-1247