Provider: NIHR Journals Library Content:text/plain; charset="UTF-8" TY - JOUR LB - 1. AU - Drousiotou, A AU - Ioannou, P AU - Georgiou, T AU - Mavrikiou, E AU - Christopoulos, G AU - Kyriakides, T TI - Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus J2 - Genet Test PY - 1998 VL - 2 SP - 55 EP - 60 UR - http://dx.doi.org/10.1089/gte.1998.2.55 ER - TY - JOUR LB - 2. AU - Bradley, D AU - Parsons, E TI - Newborn screening for Duchenne muscular dystrophy J2 - Semin Neonatol PY - 1998 VL - 3 SP - 34 UR - https://doi.org/10.1016/S1084-2756(98)80146-2 ER - TY - JOUR LB - 3. AU - Emery, AE TI - Population frequencies of inherited neuromuscular diseases – a world survey J2 - Neuromuscul Disord PY - 1991 VL - 1 SP - 19 EP - 29 UR - https://doi.org/10.1016/0960-8966(91)90039-U ER - TY - JOUR LB - 4. AU - Angelis, A AU - Tordrup, D AU - Kanavos, P TI - Socio-economic burden of rare diseases: a systematic review of cost of illness evidence J2 - Health Policy PY - 2015 VL - 119 SP - 964 EP - 979 UR - http://dx.doi.org/10.1016/j.healthpol.2014.12.016 ER - TY - ELEC LB - 5. AU - McKusick, VA AU - Hartz, PA TI - 300377.DYSTROPHIN; DMD. OMIM® – Online Mendelian Inheritance in Man® PY - 2016 UR - www.omim.org/entry/300377 M1 - 30 March 2016 ER - TY - CHAP LB - 6. AU - Anderson, L AU - Karpati, G TI - Dystrophinopathies T2 - Structural and Molecular Basis of Skeletal Muscle Diseases CY - Basel PB - ISN Neuropath Press PY - 2002 SP - 6 EP - 19 ER - TY - CHAP LB - 7. AU - Emery, AEH AU - Muntoni, F AU - Quinlivan, RCM TI - Molecular Pathology A2 - Emery, AEH A2 - Muntoni, F A2 - Quinlivan, RCM T2 - Duchenne Muscular Dystrophy CY - Oxford PB - Oxford University Press PY - 2015 SP - 148 EP - 168 UR - https://doi.org/10.1093/med/9780199681488.003.0009 ER - TY - JOUR LB - 8. AU - Poysky, J AU - Behavior in DMD Study Group TI - Behavior patterns in Duchenne muscular dystrophy: report on the Parent Project Muscular Dystrophy behavior workshop 8–9 December 2006, Philadelphia, USA J2 - Neuromuscul Disord PY - 2007 VL - 17 SP - 986 EP - 994 UR - https://doi.org/10.1016/j.nmd.2007.06.465 ER - TY - JOUR LB - 9. AU - Ricotti, V AU - Ridout, DA AU - Scott, E AU - Quinlivan, R AU - Robb, SA AU - Manzur, AY AU - Muntoni, F TI - NorthStar Clinical Network. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy J2 - J Neurol Neurosurg Psychiatr PY - 2013 VL - 84 SP - 698 EP - 705 UR - http://dx.doi.org/10.1136/jnnp-2012-303902 ER - TY - JOUR LB - 10. AU - Baiardini, I AU - Minetti, C AU - Bonifacino, S AU - Porcu, A AU - Klersy, C AU - Petralia, P TI - Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents J2 - J Child Neurol PY - 2011 VL - 26 SP - 707 EP - 713 UR - http://dx.doi.org/10.1177/0883073810389043 ER - TY - JOUR LB - 11. AU - Landfeldt, E AU - Lindgren, P AU - Bell, CF AU - Guglieri, M AU - Straub, V AU - Lochmüller, H AU - Bushby, K TI - Quantifying the burden of caregiving in Duchenne muscular dystrophy J2 - J Neurol PY - 2016 VL - 263 SP - 906 EP - 915 UR - http://dx.doi.org/10.1007/s00415-016-8080-9 ER - TY - JOUR LB - 12. AU - Kohler, M AU - Clarenbach, CF AU - Böni, L AU - Brack, T AU - Russi, EW AU - Bloch, KE TI - Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy J2 - Am J Respir Crit Care Med PY - 2005 VL - 172 SP - 1032 EP - 1036 UR - https://doi.org/10.1164/rccm.200503-322OC ER - TY - JOUR LB - 13. AU - Simon, VA AU - Resende, MB AU - Simon, MA AU - Zanoteli, E AU - Reed, UC TI - Duchenne muscular dystrophy: quality of life among 95 patients evaluated using the Life Satisfaction Index for Adolescents J2 - Arq Neuropsiquiatr PY - 2011 VL - 69 SP - 19 EP - 22 UR - https://doi.org/10.1590/S0004-282X2011000100005 ER - TY - JOUR LB - 14. AU - Uzark, K AU - King, E AU - Cripe, L AU - Spicer, R AU - Sage, J AU - Kinnett, K TI - Health-related quality of life in children and adolescents with Duchenne muscular dystrophy J2 - Pediatrics PY - 2012 VL - 130 SP - e1559 EP - e1566 UR - http://dx.doi.org/10.1542/peds.2012-0858 ER - TY - JOUR LB - 15. AU - Bray, P AU - Bundy, AC AU - Ryan, MM AU - North, KN AU - Burns, J TI - Health status of boys with Duchenne muscular dystrophy: a parent’s perspective J2 - J Paediatr Child Health PY - 2011 VL - 47 SP - 557 EP - 562 UR - http://dx.doi.org/10.1111/j.1440-1754.2011.02022.x ER - TY - JOUR LB - 16. AU - Bray, P AU - Bundy, AC AU - Ryan, MM AU - North, KN AU - Everett, A TI - Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons J2 - J Child Neurol PY - 2010 VL - 25 SP - 1188 EP - 1194 UR - http://dx.doi.org/10.1177/0883073809357624 ER - TY - JOUR LB - 17. AU - Chen, JY AU - Chen, SS AU - Jong, YJ AU - Yang, YH AU - Chang, YY TI - A comparison of the stress and coping strategies between the parents of children with Duchenne muscular dystrophy and children with a fever J2 - J Pediatr Nurs PY - 2002 VL - 17 SP - 369 EP - 379 UR - https://doi.org/10.1053/jpdn.2002.123525 ER - TY - JOUR LB - 18. AU - Chen, JY AU - Clark, MJ TI - Family function in families of children with Duchenne muscular dystrophy J2 - Fam Community Health PY - 2007 VL - 30 SP - 296 EP - 304 UR - http://dx.doi.org/10.1097/01.FCH.0000290542.10458.f8 ER - TY - JOUR LB - 19. AU - Bendixen, RM AU - Senesac, C AU - Lott, DJ AU - Vandenborne, K TI - Participation and quality of life in children with Duchenne muscular dystrophy using the international classification of functioning, disability, and health J2 - Health Qual Life Outcomes PY - 2012 VL - 10 SP - 43 UR - https://doi.org/10.1186/1477-7525-10-43 ER - TY - JOUR LB - 20. AU - Chen, JY TI - Mediators affecting family function in families of children with Duchenne muscular dystrophy J2 - Kaohsiung J Med Sci PY - 2008 VL - 24 SP - 514 EP - 522 UR - http://dx.doi.org/10.1016/S1607-551X(09)70010-5 ER - TY - JOUR LB - 21. AU - Read, J AU - Kinali, M AU - Muntoni, F AU - Weaver, T AU - Garralda, ME TI - Siblings of young people with Duchenne muscular dystrophy – a qualitative study of impact and coping J2 - Eur J Paediatr Neurol PY - 2011 VL - 15 SP - 21 EP - 28 UR - http://dx.doi.org/10.1016/j.ejpn.2010.07.006 ER - TY - JOUR LB - 22. 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