1. EXOME SEQUENCING IN THREE FAMILIES WITH CYTOPLASMIC BODY MYOPATHY WITH EARLY RESPIRATORY FAILURE. (29th November 2012) Authors: Chinnery, P; Pfeffer, G; Griffin, H; Elliott, H; Barresi, R; Straub, V; Udd, B; Horvath, R; Dick, D Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83(2012)Supplement 2 Page Start: A22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree. Issue 5 (16th April 2009) Authors: Miller, T D; Jackson, A P; Barresi, R; Smart, C M; Eugenicos, M; Summers, D; Clegg, S; Straub, V; Stone, J Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 80:Issue 5(2009) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Issue 6 (23rd June 2015) Authors: Figueroa-Bonaparte, S; Hudson, J; Barresi, R; Polvikoski, T; Williams, T; Töpf, A; Harris, E; Hilton-Jones, D; Petty, R; Willis, T A; Longman, C; Dougan, C F; Parton, M J; Hanna, M G; Quinlivan, R; Farrugia, M E; Guglieri, M; Bushby, K; Straub, V; Lochmüller, H Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 6(2016) Page Start: 680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗