-
1
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988; 2:90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
-
2
-
-
33746766278
-
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule
-
Aartsma-Rus A, Van Deutekom JC, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006; 34:135-144.
-
(2006)
Muscle Nerve
, vol.34
, pp. 135-144
-
-
Aartsma-Rus, A.1
Van Deutekom, J.C.2
Fokkema, I.F.3
-
3
-
-
61649097962
-
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
-
Aartsma-Rus A, Fokkema I, Verschuuren J, et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum Mutat 2009; 30:293-299.
-
(2009)
Hum Mutat
, vol.30
, pp. 293-299
-
-
Aartsma-Rus, A.1
Fokkema, I.2
Verschuuren, J.3
-
4
-
-
84907991204
-
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study
-
Voit T, Topaloglu H, Straub V, et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 2014; 13:987-996.
-
(2014)
Lancet Neurol
, vol.13
, pp. 987-996
-
-
Voit, T.1
Topaloglu, H.2
Straub, V.3
-
5
-
-
84890805770
-
Eteplirsen for the treatment of Duchenne muscular dystrophy
-
Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol 2013; 74:637-647.
-
(2013)
Ann Neurol
, vol.74
, pp. 637-647
-
-
Mendell, J.R.1
Rodino-Klapac, L.R.2
Sahenk, Z.3
-
6
-
-
84927669185
-
Ataluren treatment of patients with nonsense mutation dystrophinopathy
-
Bushby K, Finkel R, Wong B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve 2014; 50:477-487.
-
(2014)
Muscle Nerve
, vol.50
, pp. 477-487
-
-
Bushby, K.1
Finkel, R.2
Wong, B.3
-
7
-
-
0036895736
-
Loss of myostatin attenuates severity of muscular dystrophy in mdx mice
-
Wagner KR, McPherron AC, Winik N, et al. Loss of myostatin attenuates severity of muscular dystrophy in mdx mice. Ann Neurol 2002; 52:832-836.
-
(2002)
Ann Neurol
, vol.52
, pp. 832-836
-
-
Wagner, K.R.1
McPherron, A.C.2
Winik, N.3
-
8
-
-
84920677763
-
A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy
-
Mendell JR, Sahenk Z, Malik V, et al. A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy. Mol Ther 2015; 23:192-201.
-
(2015)
Mol Ther
, vol.23
, pp. 192-201
-
-
Mendell, J.R.1
Sahenk, Z.2
Malik, V.3
-
9
-
-
84929028797
-
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): A double-blind randomised placebo-controlled phase 3 trial
-
Buyse GM, Voit T, Schara U, et al. Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet 2015; 385:1748-1757.
-
(2015)
Lancet
, vol.385
, pp. 1748-1757
-
-
Buyse, G.M.1
Voit, T.2
Schara, U.3
-
10
-
-
84862018387
-
Duchenne muscular dystrophy gene therapy: Lost in translation?
-
Duan D. Duchenne muscular dystrophy gene therapy: Lost in translation? Res Rep Biol 2011; 2011:31-42.
-
(2011)
Res Rep Biol
, vol.2011
, pp. 31-42
-
-
Duan, D.1
-
11
-
-
77957725001
-
Dystrophin immunity in Duchenne's muscular dystrophy
-
Mendell JR, Campbell K, Rodino-Klapac L, et al. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010; 363:1429-1437.
-
(2010)
N Engl J Med
, vol.363
, pp. 1429-1437
-
-
Mendell, J.R.1
Campbell, K.2
Rodino-Klapac, L.3
-
12
-
-
84895910861
-
Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery
-
Chicoine LG, Montgomery CL, Bremer WG, et al. Plasmapheresis eliminates the negative impact of AAV antibodies on microdystrophin gene expression following vascular delivery. Mol Ther 2014; 22:338-347.
-
(2014)
Mol Ther
, vol.22
, pp. 338-347
-
-
Chicoine, L.G.1
Montgomery, C.L.2
Bremer, W.G.3
-
13
-
-
84902983023
-
Full-length dystrophin reconstitution with adeno-associated viral vectors
-
Gene therapy
-
Lostal W, Kodippili K, Yue Y, et al. Full-length dystrophin reconstitution with adeno-associated viral vectors. Hum Gene Ther 2014; 25:552-562. Gene therapy.
-
(2014)
Hum Gene Ther
, vol.25
, pp. 552-562
-
-
Lostal, W.1
Kodippili, K.2
Yue, Y.3
-
14
-
-
84903973539
-
PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy
-
Nelson MD, Rader F, Tang X, et al. PDE5 inhibition alleviates functional muscle ischemia in boys with Duchenne muscular dystrophy. Neurology 2014; 82:2085-2091.
-
(2014)
Neurology
, vol.82
, pp. 2085-2091
-
-
Nelson, M.D.1
Rader, F.2
Tang, X.3
-
15
-
-
84870365475
-
Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy
-
Martin EA, Barresi R, Byrne BJ, et al. Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy. Sci Transl Med 2012; 4:162ra55.
-
(2012)
Sci Transl Med
, vol.4
, pp. 162ra55
-
-
Martin, E.A.1
Barresi, R.2
Byrne, B.J.3
-
16
-
-
84922632326
-
PDE5 inhibitors as therapeutics for heart disease, diabetes and cancer
-
Das A, Durrant D, Salloum FN, et al. PDE5 inhibitors as therapeutics for heart disease, diabetes and cancer. Pharmacol Ther 2015; 147:12-21.
-
(2015)
Pharmacol Ther
, vol.147
, pp. 12-21
-
-
Das, A.1
Durrant, D.2
Salloum, F.N.3
-
17
-
-
84907864011
-
Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy
-
Leung DG, Herzka DA, Thompson WR, et al. Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy. Ann Neurol 2014; 76:541-549.
-
(2014)
Ann Neurol
, vol.76
, pp. 541-549
-
-
Leung, D.G.1
Herzka, D.A.2
Thompson, W.R.3
-
18
-
-
84922559355
-
Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: A randomised, double-blind, placebo-controlled trial
-
Raman SV, Hor KN, Mazur W, et al. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol 2015; 14:153-161.
-
(2015)
Lancet Neurol
, vol.14
, pp. 153-161
-
-
Raman, S.V.1
Hor, K.N.2
Mazur, W.3
-
19
-
-
84883055833
-
The 6-min walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study
-
McDonald CM, Henricson EK, Abresch RT, et al. The 6-min walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve 2013; 48:343-356.
-
(2013)
Muscle Nerve
, vol.48
, pp. 343-356
-
-
McDonald, C.M.1
Henricson, E.K.2
Abresch, R.T.3
-
20
-
-
84880950715
-
Ambulatory capacity and disease progression as measured by the 6-min-walk-distance in Duchenne muscular dystrophy subjects on daily corticosteroids
-
Goemans N, van den Hauwe M, Wilson R, et al. Ambulatory capacity and disease progression as measured by the 6-min-walk-distance in Duchenne muscular dystrophy subjects on daily corticosteroids. Neuromuscul Disord 2013; 23:618-623.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 618-623
-
-
Goemans, N.1
Van Den Hauwe, M.2
Wilson, R.3
-
21
-
-
67649842377
-
Reliability of the North Star Ambulatory Assessment in a multicentric setting
-
Mazzone ES, Messina S, Vasco G, et al. Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord 2009; 19:458-461.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 458-461
-
-
Mazzone, E.S.1
Messina, S.2
Vasco, G.3
-
22
-
-
84919683240
-
Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy
-
De Sanctis R, Pane M, Sivo S, et al. Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord 2015; 25:14-18.
-
(2015)
Neuromuscul Disord
, vol.25
, pp. 14-18
-
-
De Sanctis, R.1
Pane, M.2
Sivo, S.3
-
23
-
-
79956006620
-
Moving towards meaningful measurement: Rasch analysis of the north star ambulatory assessment in duchenne muscular dystrophy
-
Mayhew A, Cano S, Scott E, et al. Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy. Dev Med Child Neurol 2011; 53:535-542.
-
(2011)
Dev Med Child Neurol
, vol.53
, pp. 535-542
-
-
Mayhew, A.1
Cano, S.2
Scott, E.3
-
24
-
-
84878623285
-
Early neurodevelopmental assessment in Duchenne muscular dystrophy
-
PaneM, Scalise R, Berardinelli A, et al. Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord 2013; 23:451-455.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 451-455
-
-
Pane, M.1
Scalise, R.2
Berardinelli, A.3
-
25
-
-
84901030899
-
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development
-
Connolly AM, Florence JM, Cradock MM, et al. One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatr Neurol 2014; 50:557-563.
-
(2014)
Pediatr Neurol
, vol.50
, pp. 557-563
-
-
Connolly, A.M.1
Florence, J.M.2
Cradock, M.M.3
-
26
-
-
84894248468
-
Reliability of the performance of upper limb assessment in Duchenne muscular dystrophy
-
Pane M, Mazzone ES, Fanelli L, et al. Reliability of the performance of upper limb assessment in Duchenne muscular dystrophy. Neuromuscul Disord 2014; 24:201-206.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 201-206
-
-
Pane, M.1
Mazzone, E.S.2
Fanelli, L.3
-
27
-
-
84885175848
-
Development of the performance of the upper limb module for Duchenne muscular dystrophy
-
Mayhew A, Mazzone ES, Eagle M, et al. Development of the performance of the upper limb module for Duchenne muscular dystrophy. Dev Med Child Neurol 2013; 55:1038-1045.
-
(2013)
Dev Med Child Neurol
, vol.55
, pp. 1038-1045
-
-
Mayhew, A.1
Mazzone, E.S.2
Eagle, M.3
-
28
-
-
84879551364
-
Corticosteroids in Duchenne muscular dystrophy: Major variations in practice
-
Griggs RC, Herr BE, Reha A, et al. Corticosteroids in Duchenne muscular dystrophy: major variations in practice. Muscle Nerve 2013; 48:27-31.
-
(2013)
Muscle Nerve
, vol.48
, pp. 27-31
-
-
Griggs, R.C.1
Herr, B.E.2
Reha, A.3
-
29
-
-
84921321554
-
Dystrophin quantification: Biological and translational research implications
-
Anthony K, Arechavala-Gomeza V, Taylor LE, et al. Dystrophin quantification: biological and translational research implications. Neurology 2014; 83:2062-2069.
-
(2014)
Neurology
, vol.83
, pp. 2062-2069
-
-
Anthony, K.1
Arechavala-Gomeza, V.2
Taylor, L.E.3
-
30
-
-
84867333250
-
Quantitative MRI can detect subclinical disease progression in muscular dystrophy
-
Fischmann A, Hafner P, Fasler S, et al. Quantitative MRI can detect subclinical disease progression in muscular dystrophy. J Neurol 2012; 259:1648-1654.
-
(2012)
J Neurol
, vol.259
, pp. 1648-1654
-
-
Fischmann, A.1
Hafner, P.2
Fasler, S.3
-
31
-
-
84876483438
-
Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy
-
Fischmann A, Hafner P, Gloor M, et al. Quantitative MRI and loss of free ambulation in Duchenne muscular dystrophy. J Neurol 2013; 260:969-974.
-
(2013)
J Neurol
, vol.260
, pp. 969-974
-
-
Fischmann, A.1
Hafner, P.2
Gloor, M.3
-
32
-
-
84908397254
-
Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: A multicenter cross sectional study
-
Forbes SC, Willcocks RJ, Triplett WT, et al. Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study. PLoS One 2014; 9:e106435.
-
(2014)
PLoS One
, vol.9
, pp. e106435
-
-
Forbes, S.C.1
Willcocks, R.J.2
Triplett, W.T.3
-
33
-
-
84939571490
-
Quantitative muscle MRI: A powerful surrogate outcome measure in Duchenne muscular dystrophy
-
in press
-
Bonati U, Hafner P, Schadelin S, et al. Quantitative muscle MRI: a powerful surrogate outcome measure in Duchenne muscular dystrophy. Neuromuscul Disord 2015 (in press).
-
(2015)
Neuromuscul Disord
-
-
Bonati, U.1
Hafner, P.2
Schadelin, S.3
-
34
-
-
84908340223
-
Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS
-
Arpan I, Willcocks RJ, Forbes SC, et al. Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS. Neurology 2014; 83:974-980.
-
(2014)
Neurology
, vol.83
, pp. 974-980
-
-
Arpan, I.1
Willcocks, R.J.2
Forbes, S.C.3
-
35
-
-
84941773195
-
Inter-session reliability of electrical impedance myography in children in a clinical trial setting
-
in press
-
Geisbush TR, Visyak N, Madabusi L, et al. Inter-session reliability of electrical impedance myography in children in a clinical trial setting. Clin Neurophysiol (in press).
-
Clin Neurophysiol
-
-
Geisbush, T.R.1
Visyak, N.2
Madabusi, L.3
-
36
-
-
84902549793
-
Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting
-
Rutkove SB, Geisbush TR, Mijailovic A, et al. Cross-sectional evaluation of electrical impedance myography and quantitative ultrasound for the assessment of Duchenne muscular dystrophy in a clinical trial setting. Pediatr Neurol 2014; 51:88-92.
-
(2014)
Pediatr Neurol
, vol.51
, pp. 88-92
-
-
Rutkove, S.B.1
Geisbush, T.R.2
Mijailovic, A.3
|