-
1
-
-
79959852658
-
The natural history of cardiac and pulmonary function decline in patients with Duchenne muscular dystrophy
-
Roberto R, Fritz A, Hagar Y, Boice B, Skalsky A, Hwang H, et al. The natural history of cardiac and pulmonary function decline in patients with Duchenne muscular dystrophy. Spine 2011;36:E1009-E1017.
-
(2011)
Spine
, vol.36
-
-
Roberto, R.1
Fritz, A.2
Hagar, Y.3
Boice, B.4
Skalsky, A.5
Hwang, H.6
-
2
-
-
0020522923
-
Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history
-
Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley RT III, Miller JP, et al. Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve 1983;6:91-103.
-
(1983)
Muscle Nerve
, vol.6
, pp. 91-103
-
-
Brooke, M.H.1
Fenichel, G.M.2
Griggs, R.C.3
Mendell, J.R.4
Moxley III, R.T.5
Miller, J.P.6
-
3
-
-
0024332294
-
Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
-
Mendell JR, Mosley RT, Griggs RC, Brooke MH, Fenichel GM, Miller JP, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med 1989;320:1592-1597.
-
(1989)
N Engl J Med
, vol.320
, pp. 1592-1597
-
-
Mendell, J.R.1
Mosley, R.T.2
Griggs, R.C.3
Brooke, M.H.4
Fenichel, G.M.5
Miller, J.P.6
-
4
-
-
34248201124
-
Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy
-
King WM, Ruttencutter R, Nagaraja HN, Matkovic V, Landoll J, Hoyle C, et al. Orthopedic outcomes of long-term daily corticosteroid treatment in Duchenne muscular dystrophy. Neurology 2007;68:1607-1613.
-
(2007)
Neurology
, vol.68
, pp. 1607-1613
-
-
King, W.M.1
Ruttencutter, R.2
Nagaraja, H.N.3
Matkovic, V.4
Landoll, J.5
Hoyle, C.6
-
5
-
-
84860896654
-
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up
-
Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, Gnudi S, et al. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve 2012;45:796-802.
-
(2012)
Muscle Nerve
, vol.45
, pp. 796-802
-
-
Merlini, L.1
Gennari, M.2
Malaspina, E.3
Cecconi, I.4
Armaroli, A.5
Gnudi, S.6
-
6
-
-
84879554038
-
-
Malkus E, Schierbecker J, Siener C, Motor and cognitive assessment of infants and young boys with Duchenne muscular dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. P04.084 American Academy of Neurology Meeting Abstracts April 25
-
Connolly AM, Florence, JM, Cradock MM, Malkus E, Schierbecker J, Siener C, et al. Motor and cognitive assessment of infants and young boys with Duchenne muscular dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. P04.084 American Academy of Neurology Meeting Abstracts April 25, 2012.
-
(2012)
-
-
Connolly, A.M.1
Florence, J.M.2
Cradock, M.M.3
-
7
-
-
84859181514
-
Evidence-based path to newborn screening for Duchenne muscular dystrophy
-
Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 2012;71:304-313.
-
(2012)
Ann Neurol
, vol.71
, pp. 304-313
-
-
Mendell, J.R.1
Shilling, C.2
Leslie, N.D.3
Flanigan, K.M.4
al-Dahhak, R.5
Gastier-Foster, J.6
-
8
-
-
0037384644
-
Rapid direct sequence analysis of the dystrophin gene
-
Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003;7:931-939.
-
(2003)
Am J Hum Genet
, vol.7
, pp. 931-939
-
-
Flanigan, K.M.1
von Niederhausern, A.2
Dunn, D.M.3
Alder, J.4
Mendell, J.R.5
Weiss, R.B.6
-
9
-
-
38149091561
-
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, et al. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 2008;29:190-197.
-
(2008)
Hum Mutat
, vol.29
, pp. 190-197
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
Smit, M.6
-
10
-
-
51549094171
-
Microarray-based mutation detectin in the dystrophin gene
-
Hedge MR, Chin EL, Mulie JG, Odou DT, Warren ST, Zwick ME. Microarray-based mutation detectin in the dystrophin gene. Hum Mutat 2008;29:1091-1099.
-
(2008)
Hum Mutat
, vol.29
, pp. 1091-1099
-
-
Hedge, M.R.1
Chin, E.L.2
Mulie, J.G.3
Odou, D.T.4
Warren, S.T.5
Zwick, M.E.6
-
11
-
-
84862196247
-
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease
-
Tanner AK, Chin EL, Duffner PK, Hegde M. Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. Orphanet J Rare Dis 2012;7:38.
-
(2012)
Orphanet J Rare Dis
, vol.7
, pp. 38
-
-
Tanner, A.K.1
Chin, E.L.2
Duffner, P.K.3
Hegde, M.4
-
12
-
-
84859622645
-
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy
-
Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, et al. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn 2012;14:233-246.
-
(2012)
J Mol Diagn
, vol.14
, pp. 233-246
-
-
Valencia, C.A.1
Rhodenizer, D.2
Bhide, S.3
Chin, E.4
Littlejohn, M.R.5
Keong, L.M.6
-
13
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007;357:2677-2686.
-
(2007)
N Engl J Med
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
Janson, A.A.2
Ginjaar, I.B.3
Frankhuizen, W.S.4
Aartsma-Rus, A.5
Bremmer-Bout, M.6
-
14
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
-
Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol 2009;8:918-928.
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
Arechavala-Gomeza, V.2
Feng, L.3
Cirak, S.4
Hunt, D.5
Adkin, C.6
-
15
-
-
79955158683
-
Systemic administration of PRO051 in Duchenne's muscular dystrophy
-
Goemans NM, Tulinius M, Van Den Akker JT, Burm BE, Ekhart PF, Heuvelmans N, et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N Engl J Med 2011;1513-1522.
-
(2011)
N Engl J Med
, pp. 1513-1522
-
-
Goemans, N.M.1
Tulinius, M.2
Van Den Akker, J.T.3
Burm, B.E.4
Ekhart, P.F.5
Heuvelmans, N.6
-
16
-
-
80051690306
-
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose- escalation study
-
Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose- escalation study. Lancet 2011;378:595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
Arechavala-Gomeza, V.2
Guglieri, M.3
Feng, L.4
Torelli, S.5
Anthony, K.6
-
17
-
-
0025869545
-
Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response
-
Griggs RC, Moxley RT III, Mendell JR, Fenichel GM, Brooke MH, Pestronk A, et al. Prednisone in Duchenne dystrophy. A randomized, controlled trial defining the time course and dose response. Arch Neurol 1991;48:383-388.
-
(1991)
Arch Neurol
, vol.48
, pp. 383-388
-
-
Griggs, R.C.1
Moxley III, R.T.2
Mendell, J.R.3
Fenichel, G.M.4
Brooke, M.H.5
Pestronk, A.6
-
18
-
-
33744813553
-
Assessment of newborn screening parent education materials
-
Arnold CL, Davis TC, Frempong JO, Humiston SG, Bocchini A, Kennen EM, et al. Assessment of newborn screening parent education materials. Pediatrics 2006;117(Pt 2):S320-S325.
-
(2006)
Pediatrics
, vol.117
, Issue.PART 2
-
-
Arnold, C.L.1
Davis, T.C.2
Frempong, J.O.3
Humiston, S.G.4
Bocchini, A.5
Kennen, E.M.6
-
19
-
-
84865743148
-
Improving newborn screening follow-up in pediatric practices: quality improvement innovation network
-
Hinton CF, Neuspiel DR, Gubernick RS, Geleske T, Healy J, Kemper AR, et al. Improving newborn screening follow-up in pediatric practices: quality improvement innovation network. Pediatrics 2012;130:e669-e675.
-
(2012)
Pediatrics
, vol.130
-
-
Hinton, C.F.1
Neuspiel, D.R.2
Gubernick, R.S.3
Geleske, T.4
Healy, J.5
Kemper, A.R.6
|