-
1
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH Jr, Kunkel LM,. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown, Jr.R.H.2
Kunkel, L.M.3
-
2
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management
-
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9: 77-93.
-
(2010)
Lancet Neurol
, vol.9
, pp. 77-93
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
-
3
-
-
76549130473
-
Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care
-
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 2010; 9: 177-189.
-
(2010)
Lancet Neurol
, vol.9
, pp. 177-189
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
-
4
-
-
78751634526
-
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
-
Pegoraro E, Hoffman EP, Piva L, et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011; 76: 219-226.
-
(2011)
Neurology
, vol.76
, pp. 219-226
-
-
Pegoraro, E.1
Hoffman, E.P.2
Piva, L.3
-
5
-
-
84882734669
-
Modifying muscular dystrophy through transforming growth factor-beta
-
Ceco E, McNally EM,. Modifying muscular dystrophy through transforming growth factor-beta. FEBS J 2013; 280: 4198-4209.
-
(2013)
FEBS J
, vol.280
, pp. 4198-4209
-
-
Ceco, E.1
McNally, E.M.2
-
6
-
-
15244354176
-
Polymorphisms in the osteopontin promoter affect its transcriptional activity
-
Giacopelli F, Marciano R, Pistorio A, et al. Polymorphisms in the osteopontin promoter affect its transcriptional activity. Physiol Genomics 2004; 20: 87-96.
-
(2004)
Physiol Genomics
, vol.20
, pp. 87-96
-
-
Giacopelli, F.1
Marciano, R.2
Pistorio, A.3
-
7
-
-
84903993221
-
Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage
-
Barfield WL, Uaesoontrachoon K, Wu CS, et al. Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage. Hum Mol Genet 2014; 23: 4043-4050.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 4043-4050
-
-
Barfield, W.L.1
Uaesoontrachoon, K.2
Wu, C.S.3
-
8
-
-
72849135317
-
Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice
-
Heydemann A, Ceco E, Lim JE, et al. Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. J Clin Invest 2009; 119: 3703-3712.
-
(2009)
J Clin Invest
, vol.119
, pp. 3703-3712
-
-
Heydemann, A.1
Ceco, E.2
Lim, J.E.3
-
9
-
-
84878390222
-
LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy
-
Flanigan KM, Ceco E, Lamar KM, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Ann Neurol 2013; 73: 481-488.
-
(2013)
Ann Neurol
, vol.73
, pp. 481-488
-
-
Flanigan, K.M.1
Ceco, E.2
Lamar, K.M.3
-
10
-
-
78751637319
-
Predicting the severity of Duchenne muscular dystrophy: Implications for treatment
-
Nelson SF, Griggs RC,. Predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology 2011; 76: 208-209.
-
(2011)
Neurology
, vol.76
, pp. 208-209
-
-
Nelson, S.F.1
Griggs, R.C.2
-
11
-
-
33750072025
-
Using ancestry-informative markers to define populations and detect population stratification
-
Enoch MA, Shen PH, Xu K, et al. Using ancestry-informative markers to define populations and detect population stratification. J Psychopharmacol 2006; 20 (4 suppl): 19-26.
-
(2006)
J Psychopharmacol
, vol.20
, Issue.4
, pp. 19-26
-
-
Enoch, M.A.1
Shen, P.H.2
Xu, K.3
-
12
-
-
57549090341
-
Accounting for ancestry: Population substructure and genome-wide association studies
-
Tian C, Gregersen PK, Seldin MF,. Accounting for ancestry: population substructure and genome-wide association studies. Hum Mol Genet 2008; 17: R143-R150.
-
(2008)
Hum Mol Genet
, vol.17
, pp. R143-R150
-
-
Tian, C.1
Gregersen, P.K.2
Seldin, M.F.3
-
13
-
-
55749096378
-
Identifying modifier genes of monogenic disease: Strategies and difficulties
-
Genin E, Feingold J, Clerget-Darpoux F,. Identifying modifier genes of monogenic disease: strategies and difficulties. Hum Genet 2008; 124: 357-368.
-
(2008)
Hum Genet
, vol.124
, pp. 357-368
-
-
Genin, E.1
Feingold, J.2
Clerget-Darpoux, F.3
-
14
-
-
81155161042
-
Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy
-
Holtzer C, Meaney FJ, Andrews J, et al. Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy. Genet Med 2011; 13: 942-947.
-
(2011)
Genet Med
, vol.13
, pp. 942-947
-
-
Holtzer, C.1
Meaney, F.J.2
Andrews, J.3
-
15
-
-
84925642900
-
Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001
-
Fox DJ, Kumar A, West NA, et al. Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001. J Child Neurol 2015; 30: 21-26.
-
(2015)
J Child Neurol
, vol.30
, pp. 21-26
-
-
Fox, D.J.1
Kumar, A.2
West, N.A.3
-
16
-
-
0023638685
-
Duchenne muscular dystrophy: Comparison among different racial groups
-
Bortolini ER, Zatz M,. Duchenne muscular dystrophy: comparison among different racial groups. Am J Med Genet 1987; 28: 925-929.
-
(1987)
Am J Med Genet
, vol.28
, pp. 925-929
-
-
Bortolini, E.R.1
Zatz, M.2
-
17
-
-
33750591334
-
Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: An analysis of multiple cause mortality data
-
Kenneson A, Kolor K, Yang Q, et al. Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data. Am J Med Genet A 2006; 140: 2289-2297.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2289-2297
-
-
Kenneson, A.1
Kolor, K.2
Yang, Q.3
-
18
-
-
84879554058
-
The Cooperative International Neuromuscular Research Group Duchenne Natural History Study - A longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used
-
McDonald CM, Henricson EK, Abresch RT, et al. The Cooperative International Neuromuscular Research Group Duchenne Natural History Study-a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve 2013; 48: 32-54.
-
(2013)
Muscle Nerve
, vol.48
, pp. 32-54
-
-
McDonald, C.M.1
Henricson, E.K.2
Abresch, R.T.3
-
19
-
-
84879551615
-
The Cooperative International Neuromuscular Research Group Duchenne Natural History Study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
-
Henricson EK, Abresch RT, Cnaan A, et al. The Cooperative International Neuromuscular Research Group Duchenne Natural History Study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures. Muscle Nerve 2013; 48: 55-67.
-
(2013)
Muscle Nerve
, vol.48
, pp. 55-67
-
-
Henricson, E.K.1
Abresch, R.T.2
Cnaan, A.3
-
20
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
-
21
-
-
55349099184
-
The positives, protocols, and perils of genome-wide association
-
Neale BM, Purcell S,. The positives, protocols, and perils of genome-wide association. Am J Med Genet B 2008; 147B: 1288-1294.
-
(2008)
Am J Med Genet B
, vol.147 B
, pp. 1288-1294
-
-
Neale, B.M.1
Purcell, S.2
-
22
-
-
0023388660
-
Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit
-
DeSilva S, Drachman DB, Mellits D, Kuncl RW,. Prednisone treatment in Duchenne muscular dystrophy. Long-term benefit. Arch Neurol 1987; 44: 818-822.
-
(1987)
Arch Neurol
, vol.44
, pp. 818-822
-
-
Desilva, S.1
Drachman, D.B.2
Mellits, D.3
Kuncl, R.W.4
-
23
-
-
0028280495
-
Deflazacort in Duchenne dystrophy: Study of long-term effect
-
Angelini C, Pegoraro E, Turella E, et al. Deflazacort in Duchenne dystrophy: study of long-term effect. Muscle Nerve 1994; 17: 386-391.
-
(1994)
Muscle Nerve
, vol.17
, pp. 386-391
-
-
Angelini, C.1
Pegoraro, E.2
Turella, E.3
-
24
-
-
84861702194
-
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy
-
McAdam LC, Mayo AL, Alman BA, Biggar WD,. The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. Acta Myol 2012; 31: 16-20.
-
(2012)
Acta Myol
, vol.31
, pp. 16-20
-
-
McAdam, L.C.1
Mayo, A.L.2
Alman, B.A.3
Biggar, W.D.4
-
25
-
-
84877594408
-
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
-
Ricotti V, Ridout DA, Scott E, et al. Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry 2013; 84: 698-705.
-
(2013)
J Neurol Neurosurg Psychiatry
, vol.84
, pp. 698-705
-
-
Ricotti, V.1
Ridout, D.A.2
Scott, E.3
-
26
-
-
84866252725
-
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
-
Bello L, Piva L, Barp A, et al. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology 2012; 79: 159-162.
-
(2012)
Neurology
, vol.79
, pp. 159-162
-
-
Bello, L.1
Piva, L.2
Barp, A.3
-
27
-
-
84866240116
-
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle
-
Piva L, Gavassini BF, Bello L, et al. TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. J Pathol 2012; 228: 251-259.
-
(2012)
J Pathol
, vol.228
, pp. 251-259
-
-
Piva, L.1
Gavassini, B.F.2
Bello, L.3
-
28
-
-
84878937718
-
Alterations in osteopontin modify muscle size in females in both humans and mice
-
Hoffman EP, Gordish-Dressman H, McLane VD, et al. Alterations in osteopontin modify muscle size in females in both humans and mice. Med Sci Sports Exerc 2013; 45: 1060-1068.
-
(2013)
Med Sci Sports Exerc
, vol.45
, pp. 1060-1068
-
-
Hoffman, E.P.1
Gordish-Dressman, H.2
McLane, V.D.3
-
29
-
-
26844433194
-
Antiinflammatory action of glucocorticoids - New mechanisms for old drugs
-
Rhen T, Cidlowski JA,. Antiinflammatory action of glucocorticoids-new mechanisms for old drugs. N Engl J Med 2005; 353: 1711-1723.
-
(2005)
N Engl J Med
, vol.353
, pp. 1711-1723
-
-
Rhen, T.1
Cidlowski, J.A.2
-
30
-
-
18144404637
-
Prednisolone-induced changes in dystrophic skeletal muscle
-
Fisher I, Abraham D, Bouri K, et al. Prednisolone-induced changes in dystrophic skeletal muscle. FASEB J 2005; 19: 834-836.
-
(2005)
FASEB J
, vol.19
, pp. 834-836
-
-
Fisher, I.1
Abraham, D.2
Bouri, K.3
-
31
-
-
84884938319
-
VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects
-
Heier CR, Damsker JM, Yu Q, et al. VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects. EMBO Mol Med 2013; 5: 1569-1585.
-
(2013)
EMBO Mol Med
, vol.5
, pp. 1569-1585
-
-
Heier, C.R.1
Damsker, J.M.2
Yu, Q.3
-
32
-
-
84942104192
-
Validation of genetic modifiers for Duchenne muscular dystrophy: A multicentre study assessing SPP1 and LTBP4 variants
-
DOI: 10.1136/jnnp-2014-308409. [Epub ahead of print]
-
van den Bergen JC, Hiller M, Bohringer S, et al. Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry 2014;DOI: 10.1136/jnnp-2014-308409. [Epub ahead of print]
-
(2014)
J Neurol Neurosurg Psychiatry
-
-
Van Den Bergen, J.C.1
Hiller, M.2
Bohringer, S.3
-
33
-
-
84922280399
-
Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin
-
Zatz M, Pavanello RC, Lazar M, et al. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. Neuromuscul Disord 2014; 24: 986-989.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 986-989
-
-
Zatz, M.1
Pavanello, R.C.2
Lazar, M.3
|