The York Research Database

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Chen, H-J., Topp, S. D., Hui, H. S., Zacco, E., Katarya, M., McLoughlin, C., King, A. D., Smith, B. N., Troakes, C., Pastore, A. & Shaw, C. E., 11 Oct 2019

Article in Brain

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

de Majo, M., Topp, S. D., Smith, B. N., Nishimura, A. L., Chen, H-J., Soragia-Gkazi, A., Miller, J., Wong, C. H., Vance, C., Baas, F., ten Asbroek, A. LMA., Kenna, K. P., Ticozzi, N., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Morrison, K. E., Shaw, P. J. & 13 othersKirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., de Belleroche, J., Gellera, C., Ratti, A., Al-Chalabi, A., Brown Jr., R. H., Silani, V., Landers, J. E. & Shaw, C. E., 25 Jun 2018

Article in Neurobiology of Aging

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Lee, Y-B., Baskaran, P., Gomez-Deza, J., Chen, H-J., Nishimura, A. L., Smith, B. N., Troakes, C., Adachi, Y., Stepto, A., Petrucelli, L., Gallo, J-M., Hirth, F., Rogelj, B., Guthrie, S. & Shaw, C. E., 15 Dec 2017

Article in Human Molecular Genetics

Mutations in the vesicular trafficking protein Annexin A11 are associated with amyotrophic lateral sclerosis Bradley N. Smith

Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., Dias, D. M., Jeon, M., Vance, C., Wong, C. H., de Majo, M., Kattuah, W., Mitchell, J. C., Scotter, E. L. & 36 othersParkin, N. W., Sapp, P. C., Nolan, M., Nestor, P. J., Simpson, M., Weale, M., Lek, M., Baas, F., Vianney de Jong, J. M., Ten Asbroek, A. L. M. A., Redondo, A. G., Esteban-Pérez, J., Tiloca, C., Verde, F., Duga, S., Leigh, N., Pall, H., Morrison, K. E., Al-Chalabi, A., Shaw, P. J., Kirby, J., Turner, M. R., Talbot, K., Hardiman, O., Glass, J. D., De Belleroche, J., Maki, M., Moss, S. E., Miller, C., Gellera, C., Ratti, A., Al-Sarraj, S., Brown, R. H., Silani, V., Landers, J. E. & Shaw, C. E., 3 May 2017

Article in Science Translational Medicine

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Chen, H-J., Mitchell, J. C., Novoselov, S. S., Miller, J. W., Nishimura, A., Scotter, E. L., Vance, C. A., Cheetham, M. E. & Shaw, C. E. D., 1 May 2016

Article in Brain

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Chen, H-J., Topp, S. D., Hui, H. S., Zacco, E., Katarya, M., McLoughlin, C., King, A. D., Smith, B. N., Troakes, C., Pastore, A. & Shaw, C. E., 11 Oct 2019

Article in Brain

Tau burden and the functional connectome in Alzheimer's disease and progressive supranuclear palsy

Cope, T. E., Rittman, T., Borchert, R. J., Jones, S. P., Vatansever, D., Allinson, K., Passamonti, L., Vazquez Rodriguez, P., Bevan-Jones, W. R., O'Brien, J. T. & Rowe, J. B., 5 Jan 2018

Article in Brain : a journal of neurology

In vivo cholinergic basal forebrain atrophy predicts cognitive decline in de novo Parkinson’s disease

Ray, N. J., Bradburn, S., Murgatroyd, C., Toseeb, U., Mir, P., Kountouriotis, G. K., Teipel, S. J. & Grothe, M. J., 2018

Article in Brain : a journal of neurology

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., Marini-Bettolo, C., Choquet, K., Dicaire, M-J., Shao, Y-H., Topf, A., O'Ferrall, E., Eymard, B., Straub, V. & 5 othersBlanco, G., Lochmüller, H., Brais, B., Laporte, J. & Tétreault, M., 1 Jan 2017

Article in Brain : a journal of neurology