-
1
-
-
80054832701
-
-
COM the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's Challenges
-
COM(2008) 679 Final: Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe's Challenges. [ http://ec.europa.eu/health/ph-threats/non-com/docs/rare-com-en.pdf ]
-
(2008)
679 Final: Communication from the Commission to the European Parliament
-
-
-
2
-
-
84887621267
-
-
http://www.treat-nmd.eu/
-
TREAT-NMD. [ http://www.treat-nmd.eu/ ]
-
TREAT-NMD
-
-
-
3
-
-
84887619399
-
EPIRARE survey on activities and needs of rare disease registries in the European Union
-
10.1186/1750-1172-7-S2-A22
-
EPIRARE survey on activities and needs of rare disease registries in the European Union. Taruscio D, Gainotti S, Vittozzi L, Bianchi F, Ensini M, Posada M, Orphanet J Rare Dis 2012 7 22 10.1186/1750-1172-7-S2-A22
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 122
-
-
Taruscio, D.1
Gainotti, S.2
Vittozzi, L.3
Bianchi, F.4
Ensini, M.5
Posada, M.6
-
8
-
-
84887628346
-
-
Dubowitz Neuromuscular Centre: Conditions we treat. [ http://www.gosh.nhs.uk/health-professionals/clinical-specialties/ neuromuscular-information-for-health-professionals/conditions-we-treat/ ]
-
Dubowitz Neuromuscular Centre: Conditions We Treat
-
-
-
11
-
-
84887627731
-
-
CARE-NMD. [ http://www.care-nmd.eu/ ]
-
CARE-NMD
-
-
-
13
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
-
10.1016/S1474-4422(09)70271-6 19945913
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, et al. Lancet Neurol 2010 9 77 93 10.1016/S1474-4422(09)70271-6 19945913
-
(2010)
Lancet Neurol
, vol.9
, pp. 77-93
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
Case, L.E.4
Clemens, P.R.5
Cripe, L.6
Kaul, A.7
Kinnett, K.8
McDonald, C.9
Pandya, S.10
-
14
-
-
84859641520
-
Transition to adulthood for young men with Duchenne muscular dystrophy: Research from the UK
-
10.1016/j.nmd.2012.02.004 22425491
-
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. Abbott D, Carpenter J, Bushby K, Neuromuscul Disord 2012 22 445 446 10.1016/j.nmd.2012.02.004 22425491
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 445-446
-
-
Abbott, D.1
Carpenter, J.2
Bushby, K.3
-
15
-
-
84887628382
-
-
North Star Clinical Network. [ http://www.muscular-dystrophy.org/how-we- help-you/for-professionals/clinical-databases ]
-
North Star Clinical Network
-
-
-
16
-
-
76549130473
-
Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care
-
10.1016/S1474-4422(09)70272-8 19945914
-
Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, et al. Lancet Neurol 2010 9 177 189 10.1016/S1474-4422(09)70272-8 19945914
-
(2010)
Lancet Neurol
, vol.9
, pp. 177-189
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
Case, L.E.4
Clemens, P.R.5
Cripe, L.6
Kaul, A.7
Kinnett, K.8
McDonald, C.9
Pandya, S.10
-
18
-
-
84885419981
-
The TREAT-NMD Duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia
-
10.1002/humu.22390 23913485
-
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, et al. Hum Mutat 2013 34 1449 1457 10.1002/humu.22390 23913485
-
(2013)
Hum Mutat
, vol.34
, pp. 1449-1457
-
-
Bladen, C.L.1
Rafferty, K.2
Straub, V.3
Monges, S.4
Moresco, A.5
Dawkins, H.6
Roy, A.7
Chamova, T.8
Guergueltcheva, V.9
Korngut, L.10
-
19
-
-
66349094547
-
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: A model of nationwide knowledgebase
-
10.1002/humu.20976 19367636
-
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Tuffery-Giraud S, Beroud C, Leturcq F, Yaou RB, Hamroun D, Michel-Calemard L, Moizard MP, Bernard R, Cossee M, Boisseau P, et al. Hum Mutat 2009 30 934 945 10.1002/humu.20976 19367636
-
(2009)
Hum Mutat
, vol.30
, pp. 934-945
-
-
Tuffery-Giraud, S.1
Beroud, C.2
Leturcq, F.3
Yaou, R.B.4
Hamroun, D.5
Michel-Calemard, L.6
Moizard, M.P.7
Bernard, R.8
Cossee, M.9
Boisseau, P.10
-
20
-
-
84887625313
-
-
[ http://www.orpha.net/consor/cgi-bin/Clinics-Search.php?lng?=?EN ]
-
Orphanet expert centres database. [ http://www.orpha.net/consor/cgi-bin/ Clinics-Search.php?lng?=?EN ]
-
Orphanet Expert Centres Database
-
-
-
21
-
-
61649097962
-
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
-
10.1002/humu.20918 19156838
-
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen G-J, den Dunnen JT, Hum Mutat 2009 30 293 299 10.1002/humu.20918 19156838
-
(2009)
Hum Mutat
, vol.30
, pp. 293-299
-
-
Aartsma-Rus, A.1
Fokkema, I.2
Verschuuren, J.3
Ginjaar, I.4
Van Deutekom, J.5
Van Ommen, G.-J.6
Den Dunnen, J.T.7
-
22
-
-
70350690312
-
Prevalence of genetic muscle disease in northern england: In-depth analysis of a muscle clinic population
-
10.1093/brain/awp236 19767415
-
Prevalence of genetic muscle disease in northern england: in-depth analysis of a muscle clinic population. Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V, Brain 2009 132 3175 3186 10.1093/brain/awp236 19767415
-
(2009)
Brain
, vol.132
, pp. 3175-3186
-
-
Norwood, F.L.M.1
Harling, C.2
Chinnery, P.F.3
Eagle, M.4
Bushby, K.5
Straub, V.6
-
23
-
-
84873675018
-
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?
-
10.1212/WNL.0b013e318282334e
-
Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data? Scully MA, Cwik VA, Marshall BC, Ciafaloni E, Wolff JM, Getchius TS, Griggs RC, Neurol 2013 80 583 589 10.1212/WNL.0b013e318282334e
-
(2013)
Neurol
, vol.80
, pp. 583-589
-
-
Scully, M.A.1
Cwik, V.A.2
Marshall, B.C.3
Ciafaloni, E.4
Wolff, J.M.5
Getchius, T.S.6
Griggs, R.C.7
-
24
-
-
84887626047
-
-
NeurOmics. [ http://www.rd-neuromics.eu/ ]
-
NeurOmics
-
-
|