RNA binding activates RIG-I by releasing an autorepressed signaling domain

por Dickey, T. H., Song, B., Pyle, A. M.
Publicado 2019

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy

por Lewis-Smith, D.J., Duff, J., Pyle, A., Griffin, H., Polvikoski, T., Birchall, D., Horvath, R., Chinnery, P.F.
Publicado 2016

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

por Keogh, M. J., Steele, H., Douroudis, K., Pyle, A., Duff, J., Hussain, R., Smertenko, T., Griffin, H., Santibanez-Koref, M., Horvath, R., Chinnery, P. F.
Publicado 2015

A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay

por Cairns, G., Burté, F., Price, R., O’Connor, E., Toms, M., Mishra, R., Moosajee, M., Pyle, A., Sayer, J. A., Yu-Wai-Man, P.
Publicado 2021

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

por Boczonadi, V., King, M. S., Smith, A. C., Olahova, M., Bansagi, B., Roos, A., Eyassu, F., Borchers, C., Ramesh, V., Lochmüller, H., Polvikoski, T., Whittaker, R. G., Pyle, A., Griffin, H., Taylor, R. W., Chinnery, P. F., Robinson, A. J., Kunji, E. R. S., Horvath, R.
Publicado 2019

Exome sequencing in dementia with Lewy bodies

por Keogh, M J, Kurzawa-Akanbi, M, Griffin, H, Douroudis, K, Ayers, K L, Hussein, R I, Hudson, G, Pyle, A, Cordell, H J, Attems, J, McKeith, I G, O'Brien, J T, Burn, D J, Morris, C M, Thomas, A J, Chinnery, P F
Publicado 2016