-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80:1995;155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
-
2
-
-
0036591880
-
The SMN complex, an assemblyosome of ribonucleoproteins
-
Paushkin S., et al. The SMN complex, an assemblyosome of ribonucleoproteins. Curr. Opin. Cell Biol. 14:2002;305-312.
-
(2002)
Curr. Opin. Cell Biol.
, vol.14
, pp. 305-312
-
-
Paushkin, S.1
-
3
-
-
0036591665
-
The molecular bases of spinal muscular atrophy
-
Frugier T., et al. The molecular bases of spinal muscular atrophy. Curr. Opin. Genet. Dev. 12:2002;292-298.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 292-298
-
-
Frugier, T.1
-
4
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson C.L., Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum. Mol. Genet. 9:2000;259-265.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
5
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni L., Krainer A. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30:2002;377-384.
-
(2002)
Nat. Genet.
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.2
-
6
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson C.L., et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U. S. A. 96:1999;6307-6311.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
-
7
-
-
0037313165
-
Correction of disease-associated exon skipping by synthetic exon-specific activators
-
Cartegni L., Krainer A.R. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat. Struct. Biol. 10:2003;120-125.
-
(2003)
Nat. Struct. Biol.
, vol.10
, pp. 120-125
-
-
Cartegni, L.1
Krainer, A.R.2
-
8
-
-
0037388256
-
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
-
Skordis L.A., et al. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc. Natl. Acad. Sci. U. S. A. 100:2003;4114-4119.
-
(2003)
Proc. Natl. Acad. Sci. U. S. A.
, vol.100
, pp. 4114-4119
-
-
Skordis, L.A.1
-
9
-
-
0035158730
-
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
-
Liu H., et al. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat. Genet. 27:2001;55-58.
-
(2001)
Nat. Genet.
, vol.27
, pp. 55-58
-
-
Liu, H.1
-
10
-
-
0034662922
-
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann Y., et al. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl. Acad. Sci. U. S. A. 97:2000;9618-9623.
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
-
11
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang J.G., et al. Treatment of spinal muscular atrophy by sodium butyrate. Proc. Natl. Acad. Sci. U. S. A. 98:2001;9808-9813.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 9808-9813
-
-
Chang, J.G.1
-
12
-
-
0027078611
-
A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders
-
Perrine S.P., et al. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. N. Engl. J. Med. 328:1993;81-86.
-
(1993)
N. Engl. J. Med.
, vol.328
, pp. 81-86
-
-
Perrine, S.P.1
-
13
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C., et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum. Mol. Genet. 10:2001;2841-2849.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2841-2849
-
-
Andreassi, C.1
-
14
-
-
0035357574
-
Recent developments in the field of antitumour anthracyclines
-
Monneret C. Recent developments in the field of antitumour anthracyclines. Eur. J. Med. Chem. 36:2001;483-493.
-
(2001)
Eur. J. Med. Chem.
, vol.36
, pp. 483-493
-
-
Monneret, C.1
-
15
-
-
0035940380
-
Brain-specific expression of an exogenous gene after i.v. administration
-
Shi N., et al. Brain-specific expression of an exogenous gene after i.v. administration. Proc. Natl. Acad. Sci. U. S. A. 98:2001;12754-12759.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 12754-12759
-
-
Shi, N.1
-
16
-
-
0036463371
-
Drug and gene targeting to the brain with molecular Trojan horses
-
Pardridge W.M. Drug and gene targeting to the brain with molecular Trojan horses. Nat. Rev. Drug Discov. 1:2002;131-139.
-
(2002)
Nat. Rev. Drug Discov.
, vol.1
, pp. 131-139
-
-
Pardridge, W.M.1
-
17
-
-
0034078048
-
Peptide nucleic acid (PNA): Its medical and biotechnical applications and promise for the future
-
Ray A., Norden B. Peptide nucleic acid (PNA): its medical and biotechnical applications and promise for the future. FASEB J. 14:2000;1041-1060.
-
(2000)
FASEB J.
, vol.14
, pp. 1041-1060
-
-
Ray, A.1
Norden, B.2
-
18
-
-
13044266375
-
Peptide nucleic acids targeted to the neurotensin receptor and administered i.p. cross the blood-brain barrier and specifically reduce gene expression
-
Tyler B.M., et al. Peptide nucleic acids targeted to the neurotensin receptor and administered i.p. cross the blood-brain barrier and specifically reduce gene expression. Proc. Natl. Acad. Sci. U. S. A. 96:1999;7053-7058.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 7053-7058
-
-
Tyler, B.M.1
-
19
-
-
0031754150
-
Cell penetrating PNA constructs regulate galanin receptor levels and modify pain transmission in vivo
-
Pooga M., et al. Cell penetrating PNA constructs regulate galanin receptor levels and modify pain transmission in vivo. Nat. Biotechnol. 16:1998;857-861.
-
(1998)
Nat. Biotechnol.
, vol.16
, pp. 857-861
-
-
Pooga, M.1
-
20
-
-
0034687846
-
Antisense imaging of gene expression in the brain in vivo
-
Shi N., et al. Antisense imaging of gene expression in the brain in vivo. Proc. Natl. Acad. Sci. U. S. A. 97:2000;14709-14714.
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 14709-14714
-
-
Shi, N.1
-
21
-
-
0036207384
-
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
-
Cartegni L., et al. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3:2002;285-298.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 285-298
-
-
Cartegni, L.1
|