1. 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) ↗
2. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Issue 2 (2nd February 2005) Authors: Lampe, A K; Dunn, D M; von Niederhausern, A C; Hamil, C; Aoyagi, A; Laval, S H; Marie, S K; Chu, M-L; Swoboda, K; Muntoni, F; Bonnemann, C G; Flanigan, K M; Bushby, K M D; Weiss, R B Journal: Journal of medical genetics Issue: Volume 42:Issue 2(2005) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AVOIDING UNPLANNED HOSPITAL ADMISSIONS IN PATIENTS WITH NEUROMUSCULAR DISEASES: A REGIONAL COLLABORATIVE AUDIT OF HOSPITAL ADMISSIONS. (29th November 2012) Authors: Jaffer, F; Reilly, MM; Quinlivan, RR; Muntoni, F; Orrell, R; Wraige, E; Saha, R; Radunovic, A; Mummery, C; Parton, M; Hanna, M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83(2012)Supplement 2 Page Start: A23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. C2.4 Historic breakthrough in the treatment of spinal muscular atrophy (5q-sma): nusinersen (spinraza) is the first drug approved for sma. (4th October 2017) Authors: Scoto, M; Main, M; Munot, P; Manzur, A; Muntoni, F Journal: Archives of disease in childhood Issue: Volume 102(2017)Supplement 3 Page Start: A12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cardiac tissue velocities and strain rate in the early detection of myocardial dysfunction of asymptomatic boys with Duchenne's muscular dystrophy: relationship to clinical outcome. Issue 6 (30th December 2005) Authors: Giatrakos, N; Kinali, M; Stephens, D; Dawson, D; Muntoni, F; Nihoyannopoulos, P Journal: Heart Issue: Volume 92:Issue 6(2006) Page Start: 840 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Issue 8 (27th November 2014) Authors: Fridman, V; Bundy, B; Reilly, M M; Pareyson, D; Bacon, C; Burns, J; Day, J; Feely, S; Finkel, R S; Grider, T; Kirk, C A; Herrmann, D N; Laurá, M; Li, J; Lloyd, T; Sumner, C J; Muntoni, F; Piscosquito, G; Ramchandren, S; Shy, R Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 8(2015) Page Start: 873 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deletions in the 5' region of dystrophin and resulting phenotypes. Issue 11 (November 1994) Authors: Muntoni, F; Gobbi, P; Sewry, C; Sherratt, T; Taylor, J; Sandhu, S K; Abbs, S; Roberts, R; Hodgson, S V; Bobrow, M Journal: Journal of medical genetics Issue: Volume 31:Issue 11(1994) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnosis and new treatments in muscular dystrophies. Issue 1009 (5th November 2009) Authors: Manzur, A Y; Muntoni, F Journal: Postgraduate medical journal Issue: Volume 85:Issue 1009(2009) Page Start: 622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Diagnosis and new treatments in muscular dystrophies. Issue 7 (16th June 2009) Authors: Manzur, A Y; Muntoni, F Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 80:Issue 7(2009) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Duchenne muscular dystrophy presenting with failure to thrive. Issue 5 (May 1995) Authors: Rapisarda, R; Muntoni, F; Gobbi, P; Dubowitz, V Journal: Archives of disease in childhood Issue: Volume 72:Issue 5(1995) Page Start: 437 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗