Related references
Note: Only part of the references are listed.Spinal Muscular Atrophy: New and Emerging Insights from Model Mice
Gyu-Hwan Park et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2010)
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Markus Riessland et al.
HUMAN MOLECULAR GENETICS (2010)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman et al.
HUMAN MOLECULAR GENETICS (2010)
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
Ylva Mende et al.
HUMAN MOLECULAR GENETICS (2010)
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
Magali Michaud et al.
NEUROBIOLOGY OF DISEASE (2010)
Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy
Mohd Shamshudin Watibayati et al.
BRAIN & DEVELOPMENT (2009)
Intron 7 conserved sequence elements regulate the splicing of the SMN genes
Jordan T. Gladman et al.
HUMAN GENETICS (2009)
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
Lutz Garbes et al.
HUMAN MOLECULAR GENETICS (2009)
A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice
Eileen Workman et al.
HUMAN MOLECULAR GENETICS (2009)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis
Melissa Bowerman et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2009)
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
Natalia N. Singh et al.
RNA BIOLOGY (2009)
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in Transgenic mice
Yimin Hua et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
Shingo Kariya et al.
HUMAN MOLECULAR GENETICS (2008)
Embryonic motor axon development in the severe SMA mouse
Vicki L. McGovern et al.
HUMAN MOLECULAR GENETICS (2008)
The RNA Binding Protein hnRNP Q Modulates the Utilization of Exon 7 in the Survival Motor Neuron 2 (SMN2) Gene
Hung-Hsi Chen et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors
Amanda M. Haidet et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy
Matthew E. R. Butchbach et al.
NEUROBIOLOGY OF DISEASE (2007)
An intronic element contributes to splicing repression in spinal muscular atrophy
Tsuyoshi Kashima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
NK Singh et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
L Cartegni et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
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
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
How did alternative splicing evolve?
G Ast
NATURE REVIEWS GENETICS (2004)
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
NN Singh et al.
RNA (2004)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy
UR Monani et al.
JOURNAL OF CELL BIOLOGY (2003)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
L Cartegni et al.
NATURE GENETICS (2002)
Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing
CJ DiDonato et al.
HUMAN MOLECULAR GENETICS (2001)
Animal models of spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
Y Hofmann et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy
UR Monani et al.
HUMAN MOLECULAR GENETICS (2000)
Share Paper
