The registry has been involved in supporting a variety of clinical trials and research studies since 2012. Please find below publications involving the registry, and projects that the registry has supported (updated as of December 2020):


Jimenez-Moreno, A.C., Pinto, C.A., Levitan, B., Whichello, C., Dyer, C., Van Overbeeke, E., de Bekker-Grob, E., Smith, I., Huys, I., Johansson, J.V. and Adcock, K., 2020. ‘A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project.’ Wellcome Open Research5(253), p.253.


Horrigan, J., Gomes, T.B., Snape, M., Nikolenko, N., McMorn, A., Evans, S., Yaroshinsky, A., Della Pasqua, O., Oosterholt, S. and Lochmüller, H., (2020). ‘A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1)’. Pediatric Neurology112, pp.84-93.


Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D.G., Faber, C.G., Merkies, I.S., Gorman, G., Turner, C. and Lochmüller, H., (2020). ‘Change over time in ability to perform activities of daily living in myotonic dystrophy type 1’. Journal of neurology267(11), pp.3235-3242.


Landfeldt, E., Nikolenko, N., Jimenez‐Moreno, C., Cumming, S., Monckton, D.G., Faber, C.G., Merkies, I.S., Gorman, G., Turner, C. and Lochmüller, H., (2020). ‘Activities of daily living in myotonic dystrophy type 1’. Acta Neurologica Scandinavica141(5), pp.380-387.


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


Higgs, Cecilia, James E. Hilbert, Libby Wood, William B. Martens, Chiara Marini-Bettolo, Nikoletta Higgs, C., Hilbert, J.E., Wood, L., Martens, W.B., Marini-Bettolo, C., Nikolenko, N., Alsaggaf, R., Lochmüller, H., Moxley, R., Greene, M.H. and Wang, Y., (2019). ‘Reproductive cancer risk factors in women with myotonic dystrophy (DM): Survey data from the US and UK DM Registries’. Frontiers in Neurology10, p.1071-1077.


Best, A.F., Hilbert, J.E., Wood, L., Martens, W.B., Nikolenko, N., Marini‐Bettolo, C., Lochmüller, H., Rosenberg, P.S., Moxley III, R.T., Greene, M.H. and Gadalla, S.M., (2019). ‘Survival patterns and cancer determinants in families with myotonic dystrophy type 1’. European journal of neurology26(1), pp.58-65.


Cumming, S.A., Jimenez-Moreno, C., Okkersen, K., Wenninger, S., Daidj, F., Hogarth, F., Littleford, R., Gorman, G., Bassez, G., Schoser, B. and Lochmüller, H., (2019). ‘Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort’. Neurology93(10), pp.995-1009.


Flower, M., Lomeikaite, V., Ciosi, M., Cumming, S., Morales, F., Lo, K., Hensman Moss, D., Jones, L., Holmans, P., Monckton, D.G. and Tabrizi, S.J., (2019). ‘MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1’Brain142(7), pp.1876-1886.


Jimenez‐Moreno, A.C., Nikolenko, N., Kierkegaard, M., Blain, A.P., Newman, J., Massey, C., Moat, D., Sodhi, J., Atalaia, A., Gorman, G.S. and Turner, C., (2019). ‘Analysis of the functional capacity outcome measures for myotonic dystrophy’. Annals of clinical and translational neurology6(8), pp.1487-1497.


Jimenez-Moreno, A.C., Charman, S.J., Nikolenko, N., Larweh, M., Turner, C., Gorman, G., Lochmüller, H. and Catt, M., (2019). ‘Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy’. Disability and rehabilitation41(24), pp.2972-2978.


Landfeldt, E., Nikolenko, N., Jimenez-Moreno, C., Cumming, S., Monckton, D.G., Gorman, G., Turner, C. and Lochmüller, H., (2019). ‘Disease burden of myotonic dystrophy type 1’. Journal of neurology266(4), pp.998-1006.


Alsaggaf, R., Wang, Y., Marini‐Bettolo, C., Wood, L., Nikolenko, N., Lochmüller, H., Greene, M.H. and Gadalla, S.M., (2018). ‘Benign and malignant tumors in the UK myotonic dystrophy patient registry’. Muscle & nerve57(2), pp.316-320.


Okkersen, K., Jimenez-Moreno, C., Wenninger, S., Daidj, F., Glennon, J., Cumming, S., Littleford, R., Monckton, D.G., Lochmüller, H., Catt, M. and Faber, C.G., (2018). ‘Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial’. The Lancet Neurology17(8), pp.671-680.


Jiménez-Moreno, A.C., Raaphorst, J., Babačić, H., Wood, L., van Engelen, B., Lochmueller, H., Schoser, B. and Wenninger, S., (2018). ‘Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey’. Neuromuscular disorders28(3), pp.229-235.


Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A.C., Dai, Y., Dawkins, H., Manera, J.A.D., Dogan, C. and El Sherif, R., (2018). ‘Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease’. Orphanet journal of rare diseases13(1), pp.155-166.


DiPaolo, G., Jimenez-Moreno, C., Nikolenko, N., Atalaia, A., Monckton, D.G., Guglieri, M. and Lochmüller, H., (2017). ‘Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)’Journal of neurology264(4), pp.701-708.


Wood, L., Cordts, I., Atalaia, A., Marini-Bettolo, C., Maddison, P., Phillips, M., Roberts, M., Rogers, M., Hammans, S., Straub, V. and Petty, R., (2017). ‘The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research’Journal of neurology264(5), pp.979-988.


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.


Donachie, J (2016). ‘Illuminating Loss: a study of the Capacity for Artistic Practice to Shape Research and Care in the Field of Inherited Genetic Illness’. Doctoral thesis, Northumbria University. Available at: [Accessed 05 November 2020]