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Kelvin See et al.
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Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
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Spliceosome integrity is defective in the motor neuron diseases ALS and SMA
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Falls and spinal muscular atrophy: Exploring cause and prevention
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Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy
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SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs
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Glucose metabolism and pancreatic defects in spinal muscular atrophy
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Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
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An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
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A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
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Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models
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Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies
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Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
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Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
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Small molecule compounds correct alternative splicing of the SMN2 gene and restore SMN protein expression and function
N. Naryshkin et al.
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Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis
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Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy
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A Drosophila Model of Spinal Muscular Atrophy Uncouples snRNP Biogenesis Functions of Survival Motor Neuron from Locomotion and Viability Defects
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FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA
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Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
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HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
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HUMAN MOLECULAR GENETICS (2011)
Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice
Deborah Y. Kwon et al.
HUMAN MOLECULAR GENETICS (2011)
Temporal requirement for high SMN expression in SMA mice
Thanh T. Le et al.
HUMAN MOLECULAR GENETICS (2011)
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy
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JOURNAL OF CLINICAL INVESTIGATION (2011)
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
Yimin Hua et al.
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Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits
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Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
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Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene
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Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
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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
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KH-type splicing regulatory protein interacts with survival motor neuron protein and is misregulated in spinal muscular atrophy
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Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
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Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
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Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
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Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
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The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
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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
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Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
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