-
1
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 87-91
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
Tomizawa, Y.4
Friesen, W.J.5
Trifillis, P.6
Paushkin, S.7
Patel, M.8
Trotta, C.R.9
Hwang, S.10
Wilde, R.G.11
Karp, G.12
Takasugi, J.13
Chen, G.14
Jones, S.15
Ren, H.16
Moon, Y.C.17
Corson, D.18
Turpoff, A.A.19
Campbell, J.A.20
Conn, M.M.21
Khan, A.22
Almstead, N.G.23
Hedrick, J.24
Mollin, A.25
Risher, N.26
Weetall, M.27
Yeh, S.28
Branstrom, A.A.29
Colacino, J.M.30
Babiak, J.31
Ju, W.D.32
Hirawat, S.33
Northcutt, V.J.34
Miller, L.L.35
Spatrick, P.36
He, F.37
Kawana, M.38
Feng, H.39
Jacobson, A.40
Peltz, S.W.41
Sweeney, H.L.42
more..
-
2
-
-
77952938084
-
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy
-
Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD, Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM, Sahenk Z, Barohn RJ, Walker CM, Mendell JR. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010; 67: 771-80
-
(2010)
Ann Neurol
, vol.67
, pp. 771-780
-
-
Malik, V.1
Rodino-Klapac, L.R.2
Viollet, L.3
Wall, C.4
King, W.5
Al-Dahhak, R.6
Lewis, S.7
Shilling, C.J.8
Kota, J.9
Serrano-Munuera, C.10
Hayes, J.11
Mahan, J.D.12
Campbell, K.J.13
Banwell, B.14
Dasouki, M.15
Watts, V.16
Sivakumar, K.17
Bien-Willner, R.18
Flanigan, K.M.19
Sahenk, Z.20
Barohn, R.J.21
Walker, C.M.22
Mendell, J.R.23
more..
-
3
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M, den Dunnen JT, Koop K, van der Kooi AJ, Goemans NM, de Kimpe SJ, Ekhart PF, Venneker EH, Platenburg GJ, Verschuuren JJ, van Ommen GJ. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 2007; 357: 2677-86
-
(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
den Dunnen, J.T.7
Koop, K.8
van der Kooi, A.J.9
Goemans, N.M.10
de Kimpe, S.J.11
Ekhart, P.F.12
Venneker, E.H.13
Platenburg, G.J.14
Verschuuren, J.J.15
van Ommen, G.J.16
-
4
-
-
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, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F. 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: 918-28
-
(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
Guglieri, M.7
Ashton, E.8
Abbs, S.9
Nihoyannopoulos, P.10
Garralda, M.E.11
Rutherford, M.12
McCulley, C.13
Popplewell, L.14
Graham, I.R.15
Dickson, G.16
Wood, M.J.17
Wells, D.J.18
Wilton, S.D.19
Kole, R.20
Straub, V.21
Bushby, K.22
Sewry, C.23
Morgan, J.E.24
Muntoni, F.25
more..
-
5
-
-
77957725001
-
Dystrophin immunity in Duchenne's muscular dystrophy
-
Mendell JR, Campbell K, Rodino-Klapac L, Sahenk Z, Shilling C, Lewis S, Bowles D, Gray S, Li C, Galloway G, Malik V, Coley B, Clark KR, Li J, Xiao X, Samulski J, McPhee SW, Samulski RJ, Walker CM. Dystrophin immunity in Duchenne's muscular dystrophy. N Engl J Med 2010; 363: 1429-37
-
(2010)
N Engl J Med
, vol.363
, pp. 1429-1437
-
-
Mendell, J.R.1
Campbell, K.2
Rodino-Klapac, L.3
Sahenk, Z.4
Shilling, C.5
Lewis, S.6
Bowles, D.7
Gray, S.8
Li, C.9
Galloway, G.10
Malik, V.11
Coley, B.12
Clark, K.R.13
Li, J.14
Xiao, X.15
Samulski, J.16
McPhee, S.W.17
Samulski, R.J.18
Walker, C.M.19
-
6
-
-
77952372081
-
Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression
-
Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol 2010; 36: 265-74
-
(2010)
Neuropathol Appl Neurobiol
, vol.36
, pp. 265-274
-
-
Arechavala-Gomeza, V.1
Kinali, M.2
Feng, L.3
Brown, S.C.4
Sewry, C.5
Morgan, J.E.6
Muntoni, F.7
-
7
-
-
77952010104
-
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials
-
Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry CA, Morgan JE, Muntoni F. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord 2010; 20: 295-301
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 295-301
-
-
Arechavala-Gomeza, V.1
Kinali, M.2
Feng, L.3
Guglieri, M.4
Edge, G.5
Main, M.6
Hunt, D.7
Lehovsky, J.8
Straub, V.9
Bushby, K.10
Sewry, C.A.11
Morgan, J.E.12
Muntoni, F.13
-
8
-
-
36248985708
-
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
-
Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord 2007; 17: 913-18
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 913-918
-
-
Neri, M.1
Torelli, S.2
Brown, S.3
Ugo, I.4
Sabatelli, P.5
Merlini, L.6
Spitali, P.7
Rimessi, P.8
Gualandi, F.9
Sewry, C.10
Ferlini, A.11
Muntoni, F.12
-
9
-
-
71749114728
-
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
-
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ, Weiss RB. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009; 30: 1657-66
-
(2009)
Hum Mutat
, vol.30
, pp. 1657-1666
-
-
Flanigan, K.M.1
Dunn, D.M.2
von Niederhausern, A.3
Soltanzadeh, P.4
Gappmaier, E.5
Howard, M.T.6
Sampson, J.B.7
Mendell, J.R.8
Wall, C.9
King, W.M.10
Pestronk, A.11
Florence, J.M.12
Connolly, A.M.13
Mathews, K.D.14
Stephan, C.M.15
Laubenthal, K.S.16
Wong, B.L.17
Morehart, P.J.18
Meyer, A.19
Finkel, R.S.20
Bonnemann, C.G.21
Medne, L.22
Day, J.W.23
Dalton, J.C.24
Margolis, M.K.25
Hinton, V.J.26
Weiss, R.B.27
more..
-
10
-
-
39049095823
-
DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
-
Gurvich OL, Tuohy TM, Howard MT, Finkel RS, Medne L, Anderson CB, Weiss RB, Wilton SD, Flanigan KM. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol 2008; 63: 81-9
-
(2008)
Ann Neurol
, vol.63
, pp. 81-89
-
-
Gurvich, O.L.1
Tuohy, T.M.2
Howard, M.T.3
Finkel, R.S.4
Medne, L.5
Anderson, C.B.6
Weiss, R.B.7
Wilton, S.D.8
Flanigan, K.M.9
-
11
-
-
0033960712
-
Immunocytochemical analysis of human muscular dystrophy
-
Sewry CA. Immunocytochemical analysis of human muscular dystrophy. Microsc Res Tech 2000; 48: 142-54
-
(2000)
Microsc Res Tech
, vol.48
, pp. 142-154
-
-
Sewry, C.A.1
-
12
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
Hayashi YK, Engvall E, Arikawa-Hirasawa E, Goto K, Koga R, Nonaka I, Sugita H, Arahata K. Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993; 119: 53-64
-
(1993)
J Neurol Sci
, vol.119
, pp. 53-64
-
-
Hayashi, Y.K.1
Engvall, E.2
Arikawa-Hirasawa, E.3
Goto, K.4
Koga, R.5
Nonaka, I.6
Sugita, H.7
Arahata, K.8
-
13
-
-
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, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. 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
Abbs, S.7
Garralda, M.E.8
Bourke, J.9
Wells, D.J.10
Dickson, G.11
Wood, M.J.12
Wilton, S.D.13
Straub, V.14
Kole, R.15
Shrewsbury, S.B.16
Sewry, C.17
Morgan, J.E.18
Bushby, K.19
Muntoni, F.20
more..
|