Results and publications

Data collected in the REaDY project are analysed and subsequently used in publications in medical journals and in conference presentations. Institutions and physicians participating in the project are also involved in educational activities aimed at healthcare professionals as well as those intended for the general public.

Selected publications

  • Vry J, Gramsch K, Rodger S, et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences. Journal of Neuromuscular Diseases 2017.
  • Voháňka S, Parmová O, Mazanec R, Strenková J, Ridzoň P, Ehler E, Vávra A, Forgáč M, Junkerová J, Božovský T, Kunc P. Myotonic dystrophy in Czech Republic: data from the national registry. Journal of the Neurological Sciences 2015; 357(Suppl 1):e347–e348. doi: 10.1016/j.jns.2015.08.1232
  • Parmová O, Voháňka S, Strenková J. The character and frequency of muscular pain in myotonic dystrophy and their relationship to myotonia. International Journal of Neurology and Neurotherapy 2014; 1: 009. ( fulltext)
  • Strenková J, Voháňka S, Haberlová J, Junkerová J , Mazanec R, Mrázová L Parmová O, Ridzoň P, Staněk J, Šišková D, Vondráček P, Brabec P, Šnajdrová L. REaDY: český registr svalových dystrofií. Česká a slovenská neurologie a neurochirurgie 2014; 77(2): 230-234. ( fulltext)
  • Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, et al. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. Journal of Neurology 2014; 261(1): 152-163. doi: 10.1007/s00415-013-7154-1
  • Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, et al. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Human Mutation 2013; 34(11): 1449-1457. doi: 10.1002/humu.22390
  • Brabec P, Vondrácek P, Klimes D, Baumeister S, Lochmüller H, Pavlík T, Gregor J. Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach. Neuromuscular Disorders 2009; 19(4): 250-254. doi: 10.1016/j.nmd.2009.01.005

 

Selected conference presentations

  • Voháňka S, Parmová O, Mazanec R, Strenková J, Ridzoň P, Ehler E, Forgáč M, Junkerová J, Božovský T, Kunc P.
    Czech National Registry of Myotonic Disorders
    IDMC10, 8–12 June 2015, Paris, France. Download poster (PDF file, 340 kB)  / Download abstract (PDF file, 70 kB)
  • Voháňka S, Parmová O, Mazanec R, Vondráček P, Mrázová L, Haberlová J, Brázdilová J, Strenková J., Brabec P.
    G.P.250: Czech national registries of hereditary neuromuscular disorders
    Neuromuscular Disorders 2014; 24(9–10): 892. DOI 10.1016/j.nmd.2014.06.326
  • Parmová O, Voháňka S, Strenková J.
    G.P.249: Frequency of multisystem abnormalities among Czech patients with myotonic dystrophy
    Neuromuscular Disorders 2014; 24(9–10): 891–892. DOI 10.1016/j.nmd.2014.06.325
  • Voháňka S, Parmová O, Strenková J.
    Lower Urinary Tract and Bowel Dysfunction in Patients with Myotonic Dystrophy
    13th International Congress on Neuromuscular Diseases, 5–7 July 2014, Nice, France.
  • Voháňka S, Parmová O, Strenková J.
    Pain in patients with myotonic dystrophy: Comparison between type 1 and type 2
    Neuromuscular Disorders 2013; 23(9-10): 834–835. DOI 10.1016/j.nmd.2013.06.678
  • Vry J, Gramsch K, Rodger S, Antonova V, Brabec P, Catlin N, et al.
    Current care practice in Duchenne Muscular Dystrophy in Europe - results of the CARE-NMD cross-sectional survey
    17th International Congress of the World Muscle Society. 2012. ISSN 0960-8966. DOI 10.1016/j.nmd.2012.06.277
  • Rahbek J, Hojberg A, Mahoney A, Steffensen B, Rodger S, Bushby K, et al.
    CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy.
    17th International Congress of the World Muscle Society. 2012. ISSN 0960-8966. DOI 10.1016/j.nmd.2012.06.310
  • Rodger S, Antonova V, Brabec P, Catlin N, Garami M, Gramsch K, et al.
    CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy
    17th International Congress of the World Muscle Society. 2012. ISSN 0960-8966. DOI 10.1016/j.nmd.2012.06.255