-
1
-
-
0036823504
-
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
-
DOI 10.1016/S0960-8966(02)00086-X, PII S096089660200086X
-
Aartsma-Rus, A., Bremmer-Bout, M., Janson, A.A., et al. (2002). Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul. Disord. 12(Suppl. 1), S71-77. (Pubitemid 36158776)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.SUPPL.
-
-
Aartsma-Rus, A.1
Bremmer-Bout, M.2
Janson, A.A.M.3
Den Dunnen, J.T.4
Van Ommen, G.-J.B.5
Van Deutekom, J.C.T.6
-
2
-
-
0037447517
-
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
-
DOI 10.1093/hmg/ddg100
-
Aartsma-Rus, A., Janson, A.A., Kaman, W.E., et al. (2003). Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum. Mol. Genet. 12, 907-914. (Pubitemid 36504033)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.8
, pp. 907-914
-
-
Aartsma-Rus, A.1
Janson, A.A.M.2
Kaman, W.E.3
Bremmer-Bout, M.4
Den Dunnen, T.J.T.5
Baas, F.6
Van Ommen, G.-J.B.7
Van Deutekom, J.C.T.8
-
3
-
-
77953124090
-
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
-
Abbs, S., Tuffery-Giraud, S., Bakker, E., et al. (2010). Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies. Neuromuscul. Disord. 20, 422-427.
-
(2010)
Neuromuscul. Disord
, vol.20
, pp. 422-427
-
-
Abbs, S.1
Tuffery-Giraud, S.2
Bakker, E.3
-
4
-
-
83755220617
-
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials
-
Anthony, K., Cirak, S., Torelli, S., et al. (2011). Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 134, 3547-3559.
-
(2011)
Brain
, vol.134
, pp. 3547-3559
-
-
Anthony, K.1
Cirak, S.2
Torelli, S.3
-
5
-
-
34848904544
-
Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle
-
DOI 10.1089/hum.2006.061
-
Arechavala-Gomeza, V., Graham, I.R., Popplewell, L.J., et al. (2007). Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum. Gene Ther. 18, 798-810. (Pubitemid 47502846)
-
(2007)
Human Gene Therapy
, vol.18
, Issue.9
, pp. 798-810
-
-
Arechavala-Gomeza, V.1
Graham, I.R.2
Popplewell, L.J.3
Adams, A.M.4
Aartsma-Rus, A.5
Kinali, M.6
Morgan, J.E.7
Van Deutekom, J.C.8
Wilton, S.D.9
Dickson, G.10
Muntoni, F.11
-
6
-
-
77952010104
-
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials
-
Arechavala-Gomeza, V., Kinali, M., Feng, L., et al. (2010). Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul. Disord. 20, 295-301.
-
(2010)
Neuromuscul. Disord
, vol.20
, pp. 295-301
-
-
Arechavala-Gomeza, V.1
Kinali, M.2
Feng, L.3
-
7
-
-
84857051254
-
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array
-
Bovolenta, M., Scotton, C., Falzarano, M.S., et al. (2012). Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. Hum. Mutat. 33, 572-581.
-
(2012)
Hum. Mutat
, vol.33
, pp. 572-581
-
-
Bovolenta, M.1
Scotton, C.2
Falzarano, M.S.3
-
8
-
-
76549130473
-
Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care
-
Bushby, K., Finkel, R., Birnkrant, D.J., et al. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 9, 177-189.
-
(2010)
Lancet Neurol
, vol.9
, pp. 177-189
-
-
Bushby, K.1
Finkel, R.2
Birnkrant, D.J.3
-
9
-
-
0027417446
-
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy: II - Correlation of phenotype with genetic and protein abnormalities
-
Bushby, K.M., Gardner-Medwin, D., Nicholson, L.V., et al. (1993). The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J. Neurol. 240, 105-112. (Pubitemid 23073201)
-
(1993)
Journal of Neurology
, vol.240
, Issue.2
, pp. 105-112
-
-
Bushby, K.M.D.1
Gardner-Medwin, D.2
Nicholson, L.V.B.3
Johnson, M.A.4
Haggerty, I.D.5
Cleghorn, N.J.6
Harris, J.B.7
Bhattacharya, S.S.8
-
10
-
-
79551594779
-
MiR-31 modulates dystrophin expression: New implications for Duchenne muscular dystrophy therapy
-
Cacchiarelli, D., Incitti, T., Martone, J., et al. (2011a). miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. EMBO Rep. 12, 136-141.
-
(2011)
EMBO Rep
, vol.12
, pp. 136-141
-
-
Cacchiarelli, D.1
Incitti, T.2
Martone, J.3
-
11
-
-
79955622637
-
MiRNAs as serum biomarkers for Duchenne muscular dystrophy
-
Cacchiarelli, D., Legnini, I., Martone, J., et al. (2011b). miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol. Med. 3, 258-265.
-
(2011)
EMBO Mol. Med
, vol.3
, pp. 258-265
-
-
Cacchiarelli, D.1
Legnini, I.2
Martone, J.3
-
12
-
-
0025647598
-
Effect of dystrophin gene deletions on mRNA levels and processing in duchenne and becker muscular dystrophies
-
Chelly, J., Gilgenkrantz, H., Lambert, M., et al. (1990). Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 63, 1239-1248. (Pubitemid 120035072)
-
(1990)
Cell
, vol.63
, Issue.6
, pp. 1239-1248
-
-
Chelly, J.1
Gilgenkrantz, H.2
Lambert, M.3
Hamard, G.4
Chafey, P.5
Recan, D.6
Katz, P.7
De La Chapelle, A.8
Koenig, M.9
Ginjaar, L.B.10
Fardeau, M.11
Tome, F.12
Kahn, A.13
Kaplan, J.-C.14
-
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., et al. (2011). 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 378, 595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
Arechavala-Gomeza, V.2
Guglieri, M.3
-
14
-
-
33846271135
-
Dystrophin, its interactions with other proteins, and implications for muscular dystrophy
-
DOI 10.1016/j.bbadis.2006.05.010, PII S0925443906001037
-
Ervasti, J.M. (2007). Dystrophin, its interactions with other proteins, and implications for muscular dystrophy. Biochim. Biophys. Acta 1772, 108-117. (Pubitemid 46123911)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.2
, pp. 108-117
-
-
Ervasti, J.M.1
-
15
-
-
84859808073
-
Exon skipping quantification by real-time PCR
-
Ferlini, A., and Rimessi, P. (2012). Exon skipping quantification by real-time PCR. Methods Mol. Biol. 867, 189-199.
-
(2012)
Methods Mol. Biol
, vol.867
, pp. 189-199
-
-
Ferlini, A.1
Rimessi, P.2
-
16
-
-
79955158683
-
Systemic administration of PRO051 in Duchenne's muscular dystrophy
-
Goemans, N.M., Tulinius, M., van den Akker, J.T., et al. (2011). Systemic administration of PRO051 in Duchenne's muscular dystrophy. N. Engl. J. Med. 364, 1513-1522.
-
(2011)
N. Engl. J. Med
, vol.364
, pp. 1513-1522
-
-
Goemans, N.M.1
Tulinius, M.2
Van Den Akker, J.T.3
-
17
-
-
65349121206
-
In vivo comparison of 2¢-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
-
Heemskerk, H.A., de Winter, C.L., de Kimpe, S.J., et al. (2009). In vivo comparison of 2¢-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J. Gene Med. 11, 257-266.
-
(2009)
J. Gene Med
, vol.11
, pp. 257-266
-
-
Heemskerk, H.A.1
De Winter, C.L.2
De Kimpe, S.J.3
-
18
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-ofconcept study
-
Kinali, M., Arechavala-Gomeza, V., Feng, L., et al. (2009). Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-ofconcept study. Lancet Neurol. 8, 918-928.
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
Arechavala-Gomeza, V.2
Feng, L.3
-
19
-
-
0026637764
-
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
-
Klein, C.J., Coovert, D.D., Bulman, D.E., et al. (1992). Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am. J. Hum. Genet. 50, 950-959.
-
(1992)
Am. J. Hum. Genet
, vol.50
, pp. 950-959
-
-
Klein, C.J.1
Coovert, D.D.2
Bulman, D.E.3
-
20
-
-
84878746211
-
The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne Muscular Dystrophy patients with different exon deletions
-
Lourbakos, A., Sipkens, J., Beekman, C., et al. (2011). The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne Muscular Dystrophy patients with different exon deletions. Neuromuscul. Disord. 21, 643-643.
-
(2011)
Neuromuscul. Disord
, vol.21
, pp. 643-643
-
-
Lourbakos, A.1
Sipkens, J.2
Beekman, C.3
-
21
-
-
0034611016
-
Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion
-
Lu, Q.L., Morris, G.E., Wilton, S.D., et al. (2000). Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J. Cell Biol. 148, 985-996.
-
(2000)
J. Cell Biol
, vol.148
, pp. 985-996
-
-
Lu, Q.L.1
Morris, G.E.2
Wilton, S.D.3
-
22
-
-
0031798117
-
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
-
Melis, M.A., Cau, M., Muntoni, F., et al. (1998). Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur. J. Paediatr. Neurol. 2, 255-261. (Pubitemid 28553033)
-
(1998)
European Journal of Paediatric Neurology
, vol.2
, Issue.5
, pp. 255-261
-
-
Melis, M.A.1
Cau, M.2
Muntoni, F.3
Mateddu, A.4
Galanello, R.5
Boccone, L.6
Deidda, F.7
Loi, D.8
Cao, A.9
-
23
-
-
0344420060
-
Dystrophin and mutations: One gene, several proteins, multiple phenotypes
-
DOI 10.1016/S1474-4422(03)00585-4
-
Muntoni, F., Torelli, S., and Ferlini, A. (2003). Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2, 731-740. (Pubitemid 37443515)
-
(2003)
Lancet Neurology
, vol.2
, Issue.12
, pp. 731-740
-
-
Muntoni, F.1
Torelli, S.2
Ferlini, A.3
-
24
-
-
0037435395
-
Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data
-
DOI 10.1016/S0304-3940(02)01423-4
-
Ramakers, C., Ruijter, J.M., Deprez, R.H., and Moorman, A.F. (2003). Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data. Neurosci. Lett. 339, 62-66. (Pubitemid 36263221)
-
(2003)
Neuroscience Letters
, vol.339
, Issue.1
, pp. 62-66
-
-
Ramakers, C.1
Ruijter, J.M.2
Lekanne Deprez, R.H.3
Moorman, A.F.M.4
-
25
-
-
64549150047
-
Amplification efficiency: Linking baseline and bias in the analysis of quantitative PCR data
-
Ruijter, J.M., Ramakers, C., Hoogaars, W.M., et al. (2009). Amplification efficiency: linking baseline and bias in the analysis of quantitative PCR data. Nucleic Acids Res. 37, e45.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Ruijter, J.M.1
Ramakers, C.2
Hoogaars, W.M.3
-
26
-
-
77956237927
-
Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne muscular dystrophy
-
Spitali, P., Heemskerk, H., Vossen, R.H., et al. (2010). Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne muscular dystrophy. Lab. Invest. 90, 1396-1402.
-
(2010)
Lab. Invest
, vol.90
, pp. 1396-1402
-
-
Spitali, P.1
Heemskerk, H.2
Vossen, R.H.3
-
27
-
-
70350731131
-
Exon skippingmediated dystrophin reading frame restoration for small mutations
-
Spitali, P., Rimessi, P., Fabris, M., et al. (2009). Exon skippingmediated dystrophin reading frame restoration for small mutations. Hum. Mutat. 30, 1527-1534.
-
(2009)
Hum. Mutat
, vol.30
, pp. 1527-1534
-
-
Spitali, P.1
Rimessi, P.2
Fabris, M.3
-
28
-
-
0028910144
-
Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin
-
Thanh, L.T., Nguyen, T.M., Helliwell, T.R., and Morris, G.E. (1995). Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin. Am. J. Hum. Genet. 56, 725-731.
-
(1995)
Am. J. Hum. Genet
, vol.56
, pp. 725-731
-
-
Thanh, L.T.1
Nguyen, T.M.2
Helliwell, T.R.3
Morris, G.E.4
-
29
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom, J.C., Janson, A.A., Ginjaar, I.B., et al. (2007). Local dystrophin restoration with antisense oligonucleotide PRO051. N. Engl. J. Med. 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
-
30
-
-
77950793623
-
RNA-targeted splicecorrection therapy for neuromuscular disease
-
Wood, M.J., Gait, M.J., Yin, H. (2010). RNA-targeted splicecorrection therapy for neuromuscular disease. Brain 133, 957-972.
-
(2010)
Brain
, vol.133
, pp. 957-972
-
-
Wood, M.J.1
Gait, M.J.2
Yin, H.3
|