Publications

The registry has been involved in supporting a variety of clinical trials and research studies since 2013. Please find below publications involving the registry, and projects that the registry has supported (updated as of November 2020):

 

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, 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 & nerve59(6), pp.711-713.

 

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 & nerve57(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 Disorders27, pp.202-206.

 

Moreira, S., Wood, L., Smith, D., Marini-Bettolo, C., Guglieri, M., McMacken, G., Bailey, G., Mayhew, A., Muni-Lofra, R., Eglon, G. and Williams, M., (2017). ‘Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy’Journal of neurology264(6), pp.1271-1280.

 

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 neurology263(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 Disorders25, 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 diseases9(S1), pp.6-7.