-
1
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
Van Deutekom J.C., Janson A.A., Ginjaar H.B., 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, H.B.3
-
2
-
-
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
-
3
-
-
33751541872
-
Copy number variation in the genome; the human DMD gene as an example
-
White S.J., den Dunnen J.T. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 2006, 115:240-246.
-
(2006)
Cytogenet Genome Res
, vol.115
, pp. 240-246
-
-
White, S.J.1
den Dunnen, J.T.2
-
4
-
-
29644442715
-
Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients
-
Beenakker E.A., Maurits N.M., Fock J.M., et al. Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients. Eur J Paediatr Neurol 2005, 9:387-393.
-
(2005)
Eur J Paediatr Neurol
, vol.9
, pp. 387-393
-
-
Beenakker, E.A.1
Maurits, N.M.2
Fock, J.M.3
-
5
-
-
0029160144
-
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype
-
Morandi L., Mora M., Confalonieri V., et al. Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. J Neurol Sci 1995, 132:146-155.
-
(1995)
J Neurol Sci
, vol.132
, pp. 146-155
-
-
Morandi, L.1
Mora, M.2
Confalonieri, V.3
-
6
-
-
33746207972
-
Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia
-
Saengpattrachai M., Ray P.N., Hawkins C.E., et al. Grandpa and I have dystrophinopathy?: approach to asymptomatic hyperCKemia. Pediatr Neurol 2006, 35:145-149.
-
(2006)
Pediatr Neurol
, vol.35
, pp. 145-149
-
-
Saengpattrachai, M.1
Ray, P.N.2
Hawkins, C.E.3
-
7
-
-
7044223308
-
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions
-
Torelli S., Brown S.C., Jimenez-Mallebrera C., et al. Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Neuropathol Appl Neurobiol 2004, 30:540-545.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 540-545
-
-
Torelli, S.1
Brown, S.C.2
Jimenez-Mallebrera, C.3
-
8
-
-
33847613394
-
Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene
-
Lesca G., Testard H., Streichenberger N., et al. Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene. Arch Pediatr 2007, 14:262-265.
-
(2007)
Arch Pediatr
, vol.14
, pp. 262-265
-
-
Lesca, G.1
Testard, H.2
Streichenberger, N.3
-
9
-
-
0028799027
-
DMD and BMD in the same family due to distinct mutations
-
Morandi L., Mora M., Tedeschi S., et al. DMD and BMD in the same family due to distinct mutations. Am J Med Genet 1995, 59:501-505.
-
(1995)
Am J Med Genet
, vol.59
, pp. 501-505
-
-
Morandi, L.1
Mora, M.2
Tedeschi, S.3
-
10
-
-
38349174487
-
Cognitive and psychological profile of males with Becker muscular dystrophy
-
Young H.K., Barton B.A., Waisbren S., et al. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol 2008, 23:155-162.
-
(2008)
J Child Neurol
, vol.23
, pp. 155-162
-
-
Young, H.K.1
Barton, B.A.2
Waisbren, S.3
-
11
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain J.S., Gibbs R.A., Ranier J.E., et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988, 16:11141-11156.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
-
12
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs A.H., Koenig M., Boyce F.M., Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990, 86:45-48.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
13
-
-
11444268506
-
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method
-
Schwartz M., Duno M. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 2004, 8:361-367.
-
(2004)
Genet Test
, vol.8
, pp. 361-367
-
-
Schwartz, M.1
Duno, M.2
-
14
-
-
14444268277
-
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
-
Muntoni F., Di L.A., Porcu M., et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart 1997, 78:608-612.
-
(1997)
Heart
, vol.78
, pp. 608-612
-
-
Muntoni, F.1
Di, L.A.2
Porcu, M.3
-
15
-
-
0026674204
-
An intact cysteine-rich domain is required for dystrophin function
-
Bies R.D., Caskey C.T., Fenwick R. An intact cysteine-rich domain is required for dystrophin function. J Clin Invest 1992, 90:666-672.
-
(1992)
J Clin Invest
, vol.90
, pp. 666-672
-
-
Bies, R.D.1
Caskey, C.T.2
Fenwick, R.3
-
16
-
-
0029959354
-
Forced expression of dystrophin deletion constructs reveals structure-function correlations
-
Rafael J.A., Cox G.A., Corrado K., et al. Forced expression of dystrophin deletion constructs reveals structure-function correlations. J Cell Biol 1996, 134:93-102.
-
(1996)
J Cell Biol
, vol.134
, pp. 93-102
-
-
Rafael, J.A.1
Cox, G.A.2
Corrado, K.3
-
17
-
-
60549088537
-
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion
-
Ferreiro V., Giliberto F., Muniz G.M., et al. Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion. Muscle Nerve 2009, 39:239-243.
-
(2009)
Muscle Nerve
, vol.39
, pp. 239-243
-
-
Ferreiro, V.1
Giliberto, F.2
Muniz, G.M.3
-
18
-
-
60749109887
-
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene
-
Miyazaki D., Yoshida K., Fukushima K., et al. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. J Hum Genet 2009, 54:127-130.
-
(2009)
J Hum Genet
, vol.54
, pp. 127-130
-
-
Miyazaki, D.1
Yoshida, K.2
Fukushima, K.3
-
19
-
-
44249125023
-
Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene
-
Nakamura A., Yoshida K., Fukushima K., et al. Follow-up of three patients with a large in-frame deletion of exons 45-55 in the Duchenne muscular dystrophy (DMD) gene. J Clin Neurosci 2008, 15:757-763.
-
(2008)
J Clin Neurosci
, vol.15
, pp. 757-763
-
-
Nakamura, A.1
Yoshida, K.2
Fukushima, K.3
-
20
-
-
55849091378
-
GENETICS: the human variome project
-
Cotton R.G., Auerbach A.D., Axton M., et al. GENETICS: the human variome project. Science 2008, 322:861-862.
-
(2008)
Science
, vol.322
, pp. 861-862
-
-
Cotton, R.G.1
Auerbach, A.D.2
Axton, M.3
-
21
-
-
0034219671
-
Post exercise myalgias as presentation form of dystrophinopathy
-
Kleinsteuber K., Rocco P., Herrera L., et al. Post exercise myalgias as presentation form of dystrophinopathy. Rev Med Chil 2000, 128:772-777.
-
(2000)
Rev Med Chil
, vol.128
, pp. 772-777
-
-
Kleinsteuber, K.1
Rocco, P.2
Herrera, L.3
-
22
-
-
0035332670
-
Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle
-
Sironi M., Bardoni A., Felisari G., et al. Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle. J Neurol Sci 2001, 186:51-57.
-
(2001)
J Neurol Sci
, vol.186
, pp. 51-57
-
-
Sironi, M.1
Bardoni, A.2
Felisari, G.3
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