1. 097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM). Issue 3 (9th February 2012) Authors: Machado, P; Hudson, J; Miller, A; Morrow, J; Parton, M; Bushby, K; Hanna, M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 3(2012) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome. Issue 3 (9th February 2012) Authors: Chaouch, A; Mueller, J S; Guergueltcheva, V; Muntoni, F; Bushby, K; Straub, V; Palace, J; Beeson, D; Abicht, A; Lochmuller, H Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 3(2012) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 165 Novel ANO5 gene mutations, c.989dupT and c.2018A→G causing Limb Girdle Muscular dystrophy 2L. Issue 3 (9th February 2012) Authors: Panicker, J; Lochmuller, H; Bushby, K; Straub, V; Hicks, D; Sarkozy, A; Ray, P Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 3(2012) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A.06 Ataluren: an overview of clinical trial results in nonsense mutation Duchenne Muscular Dystrophy (nmDMD). (17th June 2016) Authors: McDonald, CM; Bushby, K; Tulinius, M; Finkel, R; Topaloglu, H; Day, JW; Flanigan, K; Lowes, L; Eagle, M; Luo, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; Spiegel, R; Peltz, SW Journal: Canadian journal of neurological sciences Issue: Volume 43(2016)Supplement 2 Page Start: S8 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. D.08 ACT DMD (Ataluren Confirmatory Trial in Duchenne Muscular Dystrophy): effect of Ataluren on timed function tests (TFT) in nonsense mutation (nm) DMD. (17th June 2016) Authors: Goemans, N; Campbell, C; McDonald, CM; Voit, T; Luo, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; Spiegel, R; Peltz, SW; Bushby, K Journal: Canadian journal of neurological sciences Issue: Volume 43(2016)Supplement 2 Page Start: S15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hereditary spastic paraparesis: a review of new developments. Issue 2 (1st August 2000) Authors: McDermott, CJ; White, K; Bushby, K; Shaw, PJ Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 69:Issue 2(2000) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy. Issue 4 (19th March 2004) Authors: Khawaja, K; Houlsby, W T; Watson, S; Bushby, K; Cheetham, T Journal: Archives of disease in childhood Issue: Volume 89:Issue 4(2004) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. Issue 2 (February 1996) Authors: Passos-Bueno, M R; Moreira, E S; Marie, S K; Bashir, R; Vasquez, L; Love, D R; Vainzof, M; Iughetti, P; Oliveira, J R; Bakker, E; Strachan, T; Bushby, K; Zatz, M Journal: Journal of medical genetics Issue: Volume 33:Issue 2(1996) Page Start: 97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. Issue 2 (February 1997) Authors: Naom, I S; D'Alessandro, M; Topaloglu, H; Sewry, C; Ferlini, A; Helbling-Leclerc, A; Guicheney, P; Weissenbach, J; Schwartz, K; Bushby, K; Philpot, J; Dubowitz, V; Muntoni, F Journal: Journal of medical genetics Issue: Volume 34:Issue 2(1997) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗