1. 100 All that glitters is not GARS. Issue 6 (27th May 2022) Authors: Doherty, Carolynne M; Pipis, Menelaos; Skorupinska, Mariola; Manzur, Adnan; Muntoni, Francesco; Shah, Sachit; Morrow, Jasper; Rossor, Alexander M; Reilly, Mary M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 127 ACTA1 associated myopathy with neurogenic EMG changes. Issue 6 (27th May 2022) Authors: Doherty, Carolynne; Blake, Julian; Manzur, Adnan; Wakeling, Emma; Shah, Sachit; Muntoni, Francesco; Reilly, Mary Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 29 Development of a novel weight-based steroid emergency plan for patients with Duchenne Muscular Dystrophy. (15th December 2021) Authors: Tollerfield, Sally; Atterbury, Abigail; Wadey (nee Antell), Hannah; Craig, Sian; Smith, Natalie; Sarkozy, Anna; Manzur, Adnan; Dattani, Mehul; Hoskins, Steve; Katugampola, Harshini Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 49 Evaluation of a new multidisciplinary clinic for the endocrine assessment of patients with duchenne muscular dystrophy. (23rd February 2023) Authors: Malhotra, Neha; Sarkozy, Anna; Allgrove, Jeremy; Brain, Caroline; Manzur, Adnan; Chesover, Alexander Journal: Archives of disease in childhood Issue: Volume 108(2023)Supplement 1 Page Start: A18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 64 Walker Warburg syndrome (WWS) with ISPD genetic mutation- a case report. (30th November 2020) Authors: Muthukumarasamy, Premala; Mansoori, Haroon; Albialy, Ahmed; Tan, Jenn; Brown, Kerry; Henderson, Robert; Callaghan, Bridget; Pincott, Sian; Manzur, Adnan Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 74 Hypermobility in young boys with duchenne muscular dystrophy and the effect on attainment of walking age and North star ambulatory assessment functional skills. (30th November 2020) Authors: Abbott, Lianne; Selby, Victoria; Guptar, Vandana Ayyar; Wadsworth, Stephanie; Wolfe, Amy; Chesshyre, Mary; Baranello, Giovanni; Scoto, Mariacristina; Manzur, Adnan; Main, Marion; Muntoni, Francesco Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 94 Secondary outcomes of spinal surgery in patients with spinal muscular atrophy (SMA): a retrospective analysis and a family-centred survey. (22nd November 2019) Authors: Brusa, Chiara; Graaf, Julie De; Manzur, Adnan; Main, Marion; Milev, Evelin; Iodice, Mario; Ramsey, Danielle; Tucker, Stewart; Ember, Tom; Nadarajah, Ramesh; Muntoni, Francesco; Scoto, Mariacristina Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. (12th September 2018) Authors: Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, UK10K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel ... Journal: Human molecular genetics Issue: Volume 27:Number 24(2018:Dec. 15) Page Start: 4263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. (12th September 2018) Authors: Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, UK10K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel ... Journal: Human molecular genetics Issue: Volume 27:Number 24(2018:Dec. 15) Page Start: 4263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Case of paediatric neuromuscular disease with a surprising clinical outcome: time to challenge the dogma?. Issue 8 (30th January 2018) Authors: Wright, Marie; Manzur, Adnan; Bush, Andy Journal: Thorax Issue: Volume 73:Issue 8(2018) Page Start: 788 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗