Items where authors include "Topp, S.D."

Article

Opie-Martin, S., Iacoangeli, A., Topp, S.D. et al. (46 more authors) (2022) The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nature Communications, 13 (1). 6901. ISSN 2041-1723

Farhan, S.M.K., Howrigan, D.P., Abbott, L.E. et al. (32 more authors) (2019) Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nature Neuroscience, 22 (12). pp. 1966-1974. ISSN 1097-6256

de Majo, M., Topp, S.D., Smith, B.N. et al. (30 more authors) (2018) ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiology of Aging, 71. 266.e1-266.e10.

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