Publications

The registry has been involved in supporting a variety of clinical trials and research studies since 2013. Please find below a range of publications involving the registry, and projects that the registry has supported. To view these, click on the link in the study title.

• Lewis, L., Eichinger, K., Dilek, N., Higgs, K., Walker, M., Palmer, D., Cooley, J. M., Johnson, N., Tawil, R., & Statland, J. (2022). Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic. Journal of Neuromuscular Diseases, 9, 517-523. https://doi.org/10.3233/JND-220794 
   
• Rose, M., Graham C D., O'Connell, N., Vari, C., Edwards, V., Taylor, E., McCracken, L M., Radunovic, A., Rakowicz, W., Norton, S., Chalder, T. (2022). 'A randomised controlled trial of acceptance and commitment therapy for improving quality of life in people with muscle diseases' Psychological Medicine, 1-14. doi:10.1017/S0033291722000083
   
• Porter, B., Orrell, R., Graham, A., Watt, S., Lunt, P., Norwood, F., Roberts, M., Willis, T., Matthews, E., Muni-Lofra, R., Marini-Bettolo, C. (2021). 'The UK FSHD Patient Registry: Linking Patients to National and International Research Projects'. Journal of Neuromuscular Diseases, 8(s1), pp.S1-S171.
   
• Mul, K., Hamadeh, T., Horlings, C.G.C., Tawil, R., Statland, J.M, Sacconi, S., Corbett, A.J, Voermans, N.C., Faber, C.G., van Engelen, B.G.M. and Merkies, I.S.J. (2021). 'The FacioScapuloHumeral muscular Dystrophy Rasch-built Overall Disability Scale (FSHD-RODS)'. European Journal of Neurology. Online ahead of print. 

 

• Roberts-Lewis, S.F., Ashworth, M., White, C.M. and Rose, M.R. (2021). 'COVID-19 lockdown impact on the physical activity of adults with progressive muscle diseases'. British Medical Journal Neurology Open, 3(1), pp.1-3.

 

• Annoussamy, M., Eggenspieler, D., Furlong, P. and Servais, L. (2020). 'ActiMyo^Ⓡ from the patients, families and caregivers' perspectives: An international cross-sectional survey on patients with a neuromuscular disease'. Neuromuscular Disorders, 30, p118.

 

• Kulshrestha, R., Emery, N., Faux-Nightingale, A., Willis, T. and Philp, F., (2020). ‘Upper limb rehabilitation in facioscapulohumeral dystrophy (FSHD): a patients perspective’. medRxiv.

 

• Banerji, C.R., Cammish, P., Evangelista, T., Zammit, P.S., Straub, V. and Marini-Bettolo, C., (2020). ‘Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms’. Neuromuscular Disorders, 30(4), pp.315-328.

 

• Porter, B., Cammish, P., Orrell, R., Heslop, E. and Marini-Bettolo, C. ‘The UK FSHD Patient Registry: A Key Tool in the Facilitation of Clinical Research’. In: 12^th UK Neuromuscular Translational Research Conference. 2019, Newcastle.

 

• Ricci, G., Cammish, P., Siciliano, G., Tupler, R., Lochmuller, H. and Evangelista, T. (2019). ‘Phenotype may predict the clinical course of facioscapulohumeral muscular dystrophy’. Muscle & nerve, 59(6), pp.711-713.

 

• Mah, J., Feng, J., Jacobs, M.B., et al. (2018). 'A multinational study on motor function in early-onset FSHD'. Neurology, 90(15), pp1333-1338.

 

• Rose, M.R., Norton, S., Vari, C., Edwards, V., McCracken, L., Graham, C.D., Radunovic, A. and Chalder, T. (2018). 'Acceptance and Commitment Therapy for Muscle Disease (ACTMus): protocol for a two-arm randomised controlled trial of a brief guided self-help ACT programme for improving quality of life in people with muscle diseases'. British Medical Journal Neurology Open, 8(10), pp-1-10.

 

• Morís, G., Wood, L., FernáNdez‐Torrón, R., González Coraspe, J.A., Turner, C., Hilton‐Jones, D., Norwood, F., Willis, T., Parton, M., Rogers, M. and Hammans, S. (2018). ‘Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy’. Muscle & nerve, 57(3), pp.380-387.

 

• Mul, K., Kinoshita, J., Dawkins, H., Van Engelen, B., Tupler, R., Ferreira, V.A., Attarian, S., Berardinelli, A., Bogard, B., Evangelista, T. and Van Der Graaf, K., (2017). ‘225th ENMC international workshop: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands’. Neuromuscular disorders, 27(8), pp.782-790.

 

• Moris, G., Wood, L., Gonzalez, J., Fernandez-Torron, R., Lochmüller, H. and Evangelista, T., (2017). ‘Quality of life in patients with facioscapulohumeral dystrophy type 1’. Neuromuscular Disorders, 27, pp.202-206.

 

• Sernadela, P., González-Castro, L., Carta, C., Van Der Horst, E., Lopes, P., Kaliyaperumal, R., Thompson, M., Thompson, R., Queralt-Rosinach, N., Lopez, E. and Wood, L., (2017). ‘Linked registries: Connecting rare diseases patient registries through a semantic web layer’. BioMed Research International, pp.1-13.

 

• Evangelista, T., Wood, L., Fernandez-Torron, R., Williams, M., Smith, D., Lunt, P., Hudson, J., Norwood, F., Orrell, R., Willis, T. and Hilton-Jones, D., (2016). ‘Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry’. Journal of Neurology, 263(7), pp.1401-1408.

 

• Evangelista, T., Wood, L., Pohlschmidt, M., Longman, C., Roberts, M., Hilton-Jones, D., Lunt, P., Wills, T., Orrell, R., Norwood, F. and Williams, M., (2015). ‘Pain and quality of life in the UK FSHD patient registry’. Neuromuscular Disorders, 25, pp.214-215.

 

• Wood, L., Evangelista, T., Norwood, F., Orrell, R., Pohlschmidt, M., Busby, M., Graham, A., Hilton-Jones, D., Longman, C., Lunt, P. and Roberts, M., (2014). ‘UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry’. Orphanet Journal of Rare Diseases, 9(S1), pp.6-7.