Items where authors include "Troakes, C."
Article
Currò, R., Dominik, N., Facchini, S. et al. (155 more authors) (2024) Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147 (5). pp. 1887-1898. ISSN 0006-8950
Perez-Nievas, B.G., Johnson, L., Beltran-Lobo, P. et al. (10 more authors) (2021) Astrocytic C–X–C motif chemokine ligand-1 mediates β-amyloid-induced synaptotoxicity. Journal of Neuroinflammation, 18 (1). 306.
Gkazi, S.A., Troakes, C., Topp, S. et al. (10 more authors) (2019) Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiology of Aging, 73. 229.e5-229.e9. ISSN 0197-4580
Smith, B.N., Topp, S.D., Fallini, C. et al. (53 more authors) (2017) Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine, 9 (388). eaad9157. ISSN 1946-6234
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
Wong, C.H., Topp, S., Gkazi, A.S. et al. (12 more authors) (2015) The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients. Neurobiology of Aging , 36 (10). 2908.e17-2908.e18. ISSN 0197-4580
Jones, A.R., Troakes, C., King, A. et al. (13 more authors) (2015) Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes. Neurobiology of Aging, 36 (5). 2006.e1-2006.e9. ISSN 0197-4580
Peters, O.M., Shelkovnikova, T., Highley, J.R. et al. (5 more authors) (2015) Gamma-synuclein pathology in amyotrophic lateral sclerosis. Annals of Clinical and Translational Neurology, 2 (1). 29 - 37. ISSN 2328-9503
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
Van Deerlin, V.M., Sleiman, P.M.A., Martinez-Lage, M. et al. (97 more authors) (2010) Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP43 inclusions. Nature Genetics, 42 (3). pp. 234-239. ISSN 1061-4036,