Publications

The registry has been involved in supporting a variety of clinical trials and research studies since 2012. 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.

S. Peric, B. Porter, N. Bennett, D. Allison, E. Ashley, B. Esparis, C. Campbell, M. Guglieri, A. Ambrosini, R. Roxburgh (2002). TREAT-NMD myotonic dystrophy global registry network: An international collaboration in myotonic dystrophy type 2. Neuromuscular Disorders, 32, S42–S136. https://doi.org/10.1016/j.nmd.2022.07.375
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., Turner, C., Monckton, D., Hilton-Jones, D., Bowler, M., Roberts, M., Rogers, M., Rose, M., Orrell, R., Donachie, J., Williams, D., Hamilton, M., Hewamadduma, C., Sodhi, J., Marini-Bettolo, C. (2021). 'The UK Myotonic Dystrophy Patient Registry: Linking Patients to National and Internatiomal Research Projects'. Journal of Neuromuscular Diseases, 8(s1), pp.S1-S171.

Wenninger, S., Cumming, S.A., Gutschmidt, K., Okkersen, K., Jimenez-Moreno, A.C., Daidj, F., Lochmüller, H., Hogarth, F., Knoop, H., Bassez, G. and Monckton, D.G. (2021). 'Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1'. Neurology Genetics, 7(2).

Jimenez-Moreno, A.C., van Overbeeke, E., Pinto, C.A., Smith, I., Sharpe, J., Ormrod, J., Whichello, C., de Bekker-Grob, E.W., Bullok, K., Levitan, B., Huys, I., de Wit, G.A. and Gorman, G. (2021). 'Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study'. Patient.

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.

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 Neurology, 112, 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 neurology, 267(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 Scandinavica, 141(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’. 12th UK Neuromuscular Translational Research Conference. 2019, Newcastle.

Affiliation to the TREAT-NMD Consortium Using an Agreed Minimum Dataset Allows Small Registries and Large Registries to Collaborate Together, IDMC-12, Gothenburg, Sweden, 2019 (co-author).

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 Neurology, 10, 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 neurology, 26(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’. Neurology, 93(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’. Brain, 142(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 neurology, 6(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 rehabilitation, 41(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 neurology, 266(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 & nerve, 57(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 Neurology, 17(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 disorders, 28(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 diseases, 13(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 Neurology, 264(4), pp.701-708.

Moat, D., Jimenez-Moreno, C., Mayhew, A., Massey, C., Nikolenko, N., Turner C. and Lochmuller, H. (2017). 'Validity of the 6 minute walking test in myotonic dystrophy type 1 in a large scale cross-sectional study'. Neuromuscular Disorders, 27(2), pp. 226-227.

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 Neurology, 264(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 from: http://nrl.northumbria.ac.uk/id/eprint/34447/ [Accessed 05 November 2020]

Nikolenko, N., Wood, L., Turner, C., Hilton-Jones, D., Atalaia, A., Marini-Bettolo, C., Maddison, P., Philips, M., Roberts, M., Rogers, M., Straub, V., Hammans, S. and Lochmuller, H. (2016). 'The UK Myotonic Dystrophy Patient Registry'. Journal of Neuromuscular Diseases, 3, pp 166-167.

Atalaia, A., Wood, L., West, S., Anderson, K., Turner, C., Hilton-Jones, D. and Lochmuller, H. (2014). 'Fatigue and excessive daytime sleepiness in the UK Myotonic Dystrophy Patient Registry'. European Sleep Research Society, 23(1), pp. 307.

Turner, C., Hilton-Jones, D., Lochmuller, H. and Hanna, M.G. (2013). 'MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011'. Neuromuscular Disorders, 23(12), pp. 1069-1080.