Related references
Note: Only part of the references are listed.Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
Repeat-Dose Toxicology Evaluation in Cynomolgus Monkeys of AVI-4658, a Phosphorodiamidate Morpholino Oligomer (PMO) Drug for the Treatment of Duchenne Muscular Dystrophy
Peter Sazani et al.
INTERNATIONAL JOURNAL OF TOXICOLOGY (2011)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
Cathleen M. Lutz et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
Faraz Farooq et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR
Qun Zhong et al.
LAB ON A CHIP (2011)
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
Sebahattin Cirak et al.
LANCET (2011)
One-year Treatment of Morpholino Antisense Oligomer Improves Skeletal and Cardiac Muscle Functions in Dystrophic mdx Mice
Bo Wu et al.
MOLECULAR THERAPY (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
NATURE (2011)
Targeted Skipping of Human Dystrophin Exons in Transgenic Mouse Model Systemically for Antisense Drug Development
Bo Wu et al.
PLOS ONE (2011)
Newborn and Carrier Screening for Spinal Muscular Atrophy
Thomas W. Prior et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Zebrafish as a model for vertebrate hematopoiesis
Felix Ellett et al.
CURRENT OPINION IN PHARMACOLOGY (2010)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
Antisense oligonucleotides and spinal muscular atrophy: skipping along
Arthur H. M. Burghes et al.
GENES & DEVELOPMENT (2010)
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
Matthew E. R. Butchbach et al.
HUMAN MOLECULAR GENETICS (2010)
Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
Christopher R. Heier et al.
HUMAN MOLECULAR GENETICS (2010)
Cardiac defects contribute to the pathology of spinal muscular atrophy models
Monir Shababi et al.
HUMAN MOLECULAR GENETICS (2010)
Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
Adam K. Bevan et al.
HUMAN MOLECULAR GENETICS (2010)
A Rare SMN2 Variant in a Previously Unrecognized Composite Splicing Regulatory Element Induces Exon 7 Inclusion and Reduces the Clinical Severity of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2010)
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
Marco A. Passini et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Efficacy of Systemic Morpholino Exon-Skipping in Duchenne Dystrophy Dogs
Toshifumi Yokota et al.
ANNALS OF NEUROLOGY (2009)
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
Travis D. Baughan 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)
Oligonucleotide-Mediated Survival of Motor Neuron Protein Expression in CNS Improves Phenotype in a Mouse Model of Spinal Muscular Atrophy
Jason H. Williams et al.
JOURNAL OF NEUROSCIENCE (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. (vol 8, pg 918, 2009)
M. Kinali et al.
LANCET NEUROLOGY (2009)
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
Kevin D. Foust et al.
NATURE BIOTECHNOLOGY (2009)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
Arthur H. M. Burghes et al.
NATURE REVIEWS NEUROSCIENCE (2009)
Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
Dirk Baeumer et al.
PLOS GENETICS (2009)
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Maria Kinali et al.
LANCET NEUROLOGY (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)
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
Zhenxi Zhang et al.
CELL (2008)
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
Tatiana O. Gavrilina et al.
HUMAN MOLECULAR GENETICS (2008)
Embryonic motor axon development in the severe SMA mouse
Vicki L. McGovern et al.
HUMAN MOLECULAR GENETICS (2008)
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
Francesca Gabanella et al.
PLOS ONE (2007)
SMN transcript stability: Could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?
Christopher R. Heier et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy
Matthew E. R. Butchbach et al.
NEUROBIOLOGY OF DISEASE (2007)
Achieving targeted and quantifiable alteration of mRNA splicing with Morpholino oligos
Paul A. Morcos
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)
Medical considerations of long-term survival of Werdnig-Hoffmann disease
John R. Bach
AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION (2007)
Chaperoning ribonucleoprotein biogenesis in health and disease
Livio Pellizzoni
EMBO REPORTS (2007)
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
Amy M. Avila et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
Tessa L. Carrel et al.
JOURNAL OF NEUROSCIENCE (2006)
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)
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
J Alter et al.
NATURE MEDICINE (2006)
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival
Y Hachiya et al.
BRAIN & DEVELOPMENT (2005)
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive in spinal muscular atrophy
H Arai et al.
JOURNAL OF CHILD NEUROLOGY (2005)
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)
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy
Y Sun et al.
HUMAN MUTATION (2005)
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
W Rossoll et al.
JOURNAL OF CELL BIOLOGY (2003)
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
ML McWhorter et al.
JOURNAL OF CELL BIOLOGY (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (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)
Essential role for the SMN complex in the specificity of snRNP assembly
L Pellizzoni et al.
SCIENCE (2002)
Directed differentiation of embryonic stem cells into motor neurons
H Wichterle et al.
CELL (2002)
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)
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
W Rossoll et al.
HUMAN MOLECULAR GENETICS (2002)
A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs
G Meister et al.
NATURE CELL BIOLOGY (2001)
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)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)
A mouse model for spinal muscular atrophy
HM Hsieh-Li et al.
NATURE GENETICS (2000)
Share Paper
