Publications
The registry has been involved in a variety of research publications. To view a paper online, click 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: 12th 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.