-
1
-
-
84870198562
-
NF1 mutational spectrum
-
Kaufmann D (ed) Karger: Basel. Monogr Hum Genet
-
Messiaen L, Wimmer K: NF1 mutational spectrum; in: Kaufmann D (ed): Neurofi-bromatoses. Karger: Basel. Monogr Hum Genet 2008; 16: 63-77.
-
(2008)
Neurofi-bromatoses
, vol.16
, pp. 63-77
-
-
Messiaen, L.1
Wimmer, K.2
-
2
-
-
61649123895
-
Nature and mRNA effect of 282 different NF1 point mutations: Focus on splicing alterations
-
Pros E, Gomez C, Martin T, Fabregas P, Serra E, Lazaro C: Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. Hum Mutat 2008; 29: E173-E193.
-
(2008)
Hum Mutat
, vol.29
-
-
Pros, E.1
Gomez, C.2
Martin, T.3
Fabregas, P.4
Serra, E.5
Lazaro, C.6
-
3
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H: Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA 2001; 98: 9808-9813.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9808-9813
-
-
Chang, J.G.1
Hsieh-Li, H.M.2
Jong, Y.J.3
Wang, N.M.4
Tsai, C.H.5
Li, H.6
-
4
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type i spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J et al: Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001; 10: 2841-2849.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2841-2849
-
-
Andreassi, C.1
Jarecki, J.2
Zhou, J.3
-
5
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
Brichta L, Hofmann Y, Hahnen E et al: Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003; 12: 2481-2489.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
-
6
-
-
10044270719
-
Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation
-
Nissim-Rafinia M, Aviram M, Randell SH et al: Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep 2004; 5: 1071-1077.
-
(2004)
EMBO Rep
, vol.5
, pp. 1071-1077
-
-
Nissim-Rafinia, M.1
Aviram, M.2
Randell, S.H.3
-
7
-
-
1242353105
-
Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
-
Slaugenhaupt SA, Mull J, Leyne M et al: Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet 2004; 13: 429-436.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 429-436
-
-
Slaugenhaupt, S.A.1
Mull, J.2
Leyne, M.3
-
8
-
-
0141681935
-
EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
-
Anderson SL, Qiu J, Rubin BY: EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochem Biophys Res Commun 2003; 310: 627-633.
-
(2003)
Biochem Biophys Res Commun
, vol.310
, pp. 627-633
-
-
Anderson, S.L.1
Qiu, J.2
Rubin, B.Y.3
-
9
-
-
33846574156
-
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
-
Hims MM, Ibrahim EC, Leyne M et al: Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med 2007; 85: 149-161.
-
(2007)
J Mol Med
, vol.85
, pp. 149-161
-
-
Hims, M.M.1
Ibrahim, E.C.2
Leyne, M.3
-
10
-
-
33746855164
-
Defective splicing, disease and therapy: Searching for master checkpoints in exon definition
-
Buratti E, Baralle M, Baralle FE: Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 2006; 34: 3494-3510.
-
(2006)
Nucleic Acids Res
, vol.34
, pp. 3494-3510
-
-
Buratti, E.1
Baralle, M.2
Baralle, F.E.3
-
11
-
-
33746354005
-
NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
-
Baralle M, Skoko N, Knezevich A et al: NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 2006; 580: 4449-4456.
-
(2006)
FEBS Lett
, vol.580
, pp. 4449-4456
-
-
Baralle, M.1
Skoko, N.2
Knezevich, A.3
-
12
-
-
33750915033
-
NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing
-
Pros E, Larriba S, Lopez E et al: NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing. Hum Mutat 2006; 27: 1104-1114.
-
(2006)
Hum Mutat
, vol.27
, pp. 1104-1114
-
-
Pros, E.1
Larriba, S.2
Lopez, E.3
-
13
-
-
61649121051
-
Antisense therapeutics for neurofibro-matosis type 1 caused by deep intronic mutations
-
Pros E, Fernandez-Rodriguez J, Canet B et al: Antisense therapeutics for neurofibro-matosis type 1 caused by deep intronic mutations. Hum Mutat 2009; 30: 454-462.
-
(2009)
Hum Mutat
, vol.30
, pp. 454-462
-
-
Pros, E.1
Fernandez-Rodriguez, J.2
Canet, B.3
-
14
-
-
61949408123
-
Kinetin in familial dysautonomia carriers: Implications for a new therapeutic strategy targeting mRNA splicing
-
Gold-von Simson G, Goldberg JD, Rolnitzky LM et al: Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res 2009; 65: 341-346.
-
(2009)
Pediatr Res
, vol.65
, pp. 341-346
-
-
Gold-Von Simson, G.1
Goldberg, J.D.2
Rolnitzky, L.M.3
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