Found: 21
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The SMN binding protein gemin2 is not involved in motor axon outgrowth.
- Published in:
- Developmental Neurobiology (19328451), 2008, v. 68, n. 2, p. 182, doi. 10.1002/dneu.20582
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- Article
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding.
- Published in:
- Journal of Cell Biology, 2003, v. 162, n. 5, p. 919, doi. 10.1083/jcb.200303168
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- Article
A transgene carrying and A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
- Published in:
- Journal of Cell Biology, 2003, v. 160, n. 1, p. 41, doi. 10.1083/jcb.200208079
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- Article
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1625, doi. 10.1093/hmg/ddr600
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- Article
Temporal requirement for high SMN expression in SMA mice.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 18, p. 3578
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- Article
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 183, doi. 10.1002/humu.20422
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- Article
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 3895, doi. 10.1093/hmg/ddq300
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- Article
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 3, p. 454, doi. 10.1093/hmg/ddp510
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- Article
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2215, doi. 10.1093/hmg/ddp157
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- Article
Embryonic motor axon development in the severe SMA mouse.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2900, doi. 10.1093/hmg/ddn189
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- Article
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1063, doi. 10.1093/hmg/ddm379
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- Publication type:
- Article
Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 1, p. 52, doi. 10.1093/hmg/ddm284
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- Article
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn−/− mice and results in a mouse with spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2648, doi. 10.1093/hmg/ddm236
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- Publication type:
- Article
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 845, doi. 10.1093/hmg/ddi078
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- Article
Aclarubicin treatment restoresSMN levels to cells derived from type I spinal muscular atrophypatients.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 24, p. 2841, doi. 10.1093/hmg/10.24.2841
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- Article
The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2869, doi. 10.1093/hmg/9.19.2869
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- Article
Animal models of spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 16, doi. 10.1093/hmg/9.16.2451
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- Article
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1996)7:1<72::AID-HUMU13>3.0.CO;2-P
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- Article
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1173
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- Article
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 6, p. 737
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- Article
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 3, p. 311
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- Publication type:
- Article