1. A survey of the feasibility of developing osteoporosis clinical trials in Duchenne muscular dystrophy: Survey of the opinion of young people with Duchenne muscular dystrophy, families and clinicians. (February 2021) Authors: Choong Wong, Sze; Joseph, Shuko; Capaldi, Nadia; Marco, Marina Di; Dunne, Jennifer; Guglieri, Michela; Horrocks, Iain; Straub, Volker; Faisal Ahmed, S Journal: Clinical trials Issue: Volume 18:Number 1(2021) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies. (10th March 2020) Authors: Verdú-Díaz, José; Alonso-Pérez, Jorge; Nuñez-Peralta, Claudia; Tasca, Giorgio; Vissing, John; Straub, Volker; Fernández-Torrón, Roberto; Llauger, Jaume; Illa, Isabel; Díaz-Manera, Jordi Journal: Neurology Issue: Volume 94:Number 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies. Issue 7 (11th June 2014) Authors: Ayoglu, Burcu; Chaouch, Amina; Lochmüller, Hanns; Politano, Luisa; Bertini, Enrico; Spitali, Pietro; Hiller, Monika; Niks, Eric H; Gualandi, Francesca; Pontén, Fredrik; Bushby, Kate; Aartsma‐Rus, Annemieke; Schwartz, Elena; Le Priol, Yannick; Straub, Volker; Uhlén, Mathias; Cirak, Sebahattin; 't ... Journal: EMBO molecular medicine Issue: Volume 6:Issue 7(2014:Jul.) Page Start: 918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Issue 8 (12th June 2013) Authors: Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton‐Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den, Peter; Illa, Isabel; Pénisson‐Besnier, Isabelle; De, Liesbeth; Turn... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. Issue 5 (26th February 2021) Authors: Jacobs, Marni B.; James, Meredith K.; Lowes, Linda P.; Alfano, Lindsay N.; Eagle, Michelle; Muni Lofra, Robert; Moore, Ursula; Feng, Jia; Rufibach, Laura E.; Rose, Kristy; Duong, Tina; Bello, Luca; Pedrosa‐Hernández, Irene; Holsten, Scott; Sakamoto, Chikako; Canal, Aurélie; Sanchez‐Aguilera Práxe... Journal: Annals of neurology Issue: Volume 89:Issue 5(2021) Page Start: 967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Assessment of disease progression in dysferlinopathy: A 1-year cohort study. (29th January 2019) Authors: Moore, Ursula; Jacobs, Marni; James, Meredith K.; Mayhew, Anna G.; Fernandez-Torron, Roberto; Feng, Jia; Cnaan, Avital; Eagle, Michelle; Bettinson, Karen; Rufibach, Laura E.; Lofra, Robert Muni; Blamire, Andrew M.; Carlier, Pierre G.; Mittal, Plavi; Lowes, Linda Pax; Alfano, Lindsay; Rose, Kristy... Journal: Neurology Issue: Volume 92:Number 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Bisphosphonate use in Duchenne Muscular Dystrophy – why, when to start and when to stop?. (2nd April 2016) Authors: Wood, Claire L.; Marini Bettolo, Chiara; Bushby, Kate; Straub, Volker; Rawlings, David; Sarkozy, Anna; Owen, Catherine; Cheetham, Timothy D. Journal: Expert opinion on orphan drugs Issue: Volume 4:Number 4(2016:Apr.) Page Start: 407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Bones and muscular dystrophies: what do we know?. Issue 5 (October 2018) Authors: Wood, Claire L.; Straub, Volker Journal: Current opinion in neurology Issue: Volume 31:Issue 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study. Issue 5 (5th March 2022) Authors: Moore, Ursula; Fernandez‐Torron, Roberto; Jacobs, Marni; Gordish‐Dressman, Heather; Diaz‐Manera, Jordi; James, Meredith K.; Mayhew, Anna G.; Harris, Elizabeth; Guglieri, Michela; Rufibach, Laura E.; Feng, Jia; Blamire, Andrew M.; Carlier, Pierre G.; Spuler, Simone; Day, John W.; Jones, Kristi J.;... Journal: Muscle & nerve Issue: Volume 65:Issue 5(2022) Page Start: 531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. (6th September 2016) Authors: Steele, Hannah E.; Harris, Elizabeth; Barresi, Rita; Marsh, Julie; Beattie, Anna; Bourke, John P.; Straub, Volker; Chinnery, Patrick F. Journal: Neurology Issue: Volume 87:Number 10(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗