The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
暂无分享,去创建一个
R. Orrell | A. Atalaia | Hanns Lochmüller | Rachel Thompson | M. Rogers | V. Straub | D. Monckton | R. Petty | D. Hilton‐Jones | P. Maddison | I. Cordts | N. Nikolenko | C. Turner | S. Hammans | A. Jimenez-Moreno | M. Roberts | L. Wood | C. Marini‐Bettolo | M. Phillips | R. Thompson
[1] Mary Dixon-Woods,et al. Patient focused registries can improve health, care, and science , 2016, British Medical Journal.
[2] R. Orrell,et al. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry , 2016, Journal of Neurology.
[3] F. Chapon,et al. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study , 2016, PloS one.
[4] V. Rakocevic-Stojanovic,et al. Variability of multisystemic features in myotonic dystrophy type 1 – lessons from Serbian registry , 2015, Neurological research.
[5] B. Engelen,et al. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial , 2015 .
[6] G. Meola,et al. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. , 2015, Biochimica et biophysica acta.
[7] P. Robinson,et al. RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research , 2014, Journal of General Internal Medicine.
[8] H. Lochmüller,et al. 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 , 2013, Neuromuscular Disorders.
[9] Domenica Taruscio,et al. The TREAT‐NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia , 2013, Human mutation.
[10] J. Schwartz,et al. Pitolisant versus placebo or modafinil in patients with narcolepsy: a double-blind, randomised trial , 2013, The Lancet Neurology.
[11] G. Sicot,et al. RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies. , 2013, Biochimica et biophysica acta.
[12] R. Moxley,et al. Diagnostic odyssey of patients with myotonic dystrophy , 2013, Journal of Neurology.
[13] Alan Tennant,et al. Fatigue and daytime sleepiness scale in myotonic dystrophy type 1 , 2013, Muscle & nerve.
[14] L. Wilkins. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1) , 2012, Neurology.
[15] Bruce M. Wentworth,et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy , 2012, Nature.
[16] C. Longman,et al. Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 – The patients’ perspective , 2012, Neuromuscular Disorders.
[17] R. Moxley,et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). , 2012, Contemporary clinical trials.
[18] Hanns Lochmüller,et al. Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report , 2009, Neuromuscular Disorders.
[19] K. Bushby,et al. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. , 2009, Brain : a journal of neurology.
[20] B. Wieringa,et al. Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy , 2009, Proceedings of the National Academy of Sciences.
[21] K. Bushby,et al. Collaborating to bring new therapies to the patient--the TREAT-NMD model. , 2009, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.
[22] Christophe Béroud,et al. 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands , 2008, Neuromuscular Disorders.
[23] Luc Noreau,et al. Predictors of disrupted social participation in myotonic dystrophy type 1. , 2008, Archives of physical medicine and rehabilitation.
[24] D. Zipes,et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. , 2008, The New England journal of medicine.
[25] L. Noreau,et al. Life habits in myotonic dystrophy type 1. , 2007, Journal of rehabilitation medicine.
[26] D. Annane,et al. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. , 2006, The Cochrane database of systematic reviews.
[27] D. Monckton,et al. Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down. , 2006, Mutation research.
[28] F. Giubilei,et al. Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. , 2006, Journal of rehabilitation medicine.
[29] D. Hilton‐Jones. Myotonic dystrophy--forgotten aspects of an often neglected condition. , 1997, Current opinion in neurology.
[30] D. Goudie,et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. , 1996, Journal of medical genetics.
[31] T. Ashizawa,et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. , 1992, Science.
[32] C. Amemiya,et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. , 1992, Science.
[33] David E. Housman,et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member , 1992, Cell.
[34] M. Turner,et al. Oxford textbook of neuromuscular disorders , 2014 .
[35] Thomas Sejersen,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 , 2013, Journal of Neurology.
[36] E. Nanba,et al. [Myotonic dystrophy]. , 2005, Nihon rinsho. Japanese journal of clinical medicine.