1. Adult‐onset very‐long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD). (24th July 2020) Authors: Fatehi, F.; Okhovat, A. A.; Nilipour, Y.; Mroczek, M.; Straub, V.; Töpf, A.; Palibrk, A.; Peric, S.; Rakocevic Stojanovic, V.; Najmabadi, H.; Nafissi, S. Journal: European journal of neurology Issue: Volume 27:Number 11(2020) Page Start: 2257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. (14th August 2020) Authors: Giacomucci, G.; Monforte, M.; Diaz‐Manera, J.; Mul, K.; Fernandez Torrón, R.; Maggi, L.; Marini Bettolo, C.; Dahlqvist, J. R.; Haberlova, J.; Camaño, P.; Gros, M.; Tartaglione, T.; Cristiano, L.; Gerevini, S.; Calandra, P.; Deidda, G.; Giardina, E.; Sacconi, S.; Straub, V.; Vissing, J. Journal: European journal of neurology Issue: Volume 27:Number 12(2020) Page Start: 2604 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Episodic hyperCKaemia may be a feature of α‐methylacyl‐coenzyme A racemase deficiency. (12th January 2021) Authors: Krett, B.; Straub, V.; Vissing, J. Journal: European journal of neurology Issue: Volume 28:Number 2(2021) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Fracture incident rate and growth in a nationwide cohort of boys with Duchenne muscular dystrophy (Presented on behalf of The UK North Star Clinical Network). (June 2017) Authors: Joseph, S.; Bushby, K.; Guglieri, M.; Horrocks, I.; Straub, V.; Ahmed, S.F.; Wong, S.C. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of three decades of improvements in standards of care on clinical outcomes in Duchenne muscular dystrophy. (June 2017) Authors: van Ruiten, H.J.A.; Jimenez-Moreno, A.C.; Elliot, E.; Mayhew, A.; James, M.; Marini-Bettolo, C.; Lochmuller, H.; Straub, V.; Bushby, K.; Guglieri, M. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e235 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion. Issue 2 (8th January 2016) Authors: Willis, T.A.; Wood, C.L.; Hudson, J.; Polvikoski, T.; Barresi, R.; Lochmüller, H.; Bushby, K.; Straub, V. Journal: Clinical genetics Issue: Volume 90:Issue 2(2016) Page Start: 166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. (November 2016) Authors: Van Ruiten, H.J.A.; Marini Bettolo, C.; Cheetham, T.; Eagle, M.; Lochmuller, H.; Straub, V.; Bushby, K.; Guglieri, M. Journal: European journal of paediatric neurology Issue: Volume 20:Number 6(2016:Nov.) Page Start: 904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗