Pathological impact ofSMN2mis-splicing in adult SMA mice

Anatomy and function of cholinergic C bouton inputs to motor neurons

(2013) Emily C. Witts et al.   JOURNAL OF ANATOMY

TSUNAMI: an antisense method to phenocopy splicing-associated diseases in animals

(2012) K. Sahashi et al.   GENES & DEVELOPMENT

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

(2012) Thomas W. Bebee et al.   HUMAN MOLECULAR GENETICS

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé et al.   HUMAN MOLECULAR GENETICS

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

Nerve Terminal Growth Remodels Neuromuscular Synapses in Mice following Regeneration of the Postsynaptic Muscle Fiber

(2011) Y. Li et al.   JOURNAL OF NEUROSCIENCE

Changes in Aging Mouse Neuromuscular Junctions Are Explained by Degeneration and Regeneration of Muscle Fiber Segments at the Synapse

(2011) Y. Li et al.   JOURNAL OF NEUROSCIENCE

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform

(2010) C. Frank Bennett et al.   Annual Review of Pharmacology and Toxicology

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

(2010) Gyu-Hwan Park et al.   Current Neurology and Neuroscience Reports

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy

(2010) Monir Shababi et al.   HUMAN GENE THERAPY

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2

(2010) Francine M. Jodelka et al.   HUMAN MOLECULAR GENETICS

Cirrhotic cardiomyopathy

(2010) Søren Møller et al.   JOURNAL OF HEPATOLOGY

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

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

AAV4-mediated Expression of IGF-1 and VEGF Within Cellular Components of the Ventricular System Improves Survival Outcome in Familial ALS Mice

(2010) James C Dodge et al.   MOLECULAR THERAPY

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

(2009) Isabella Palazzolo et al.   NEURON

A Cluster of Cholinergic Premotor Interneurons Modulates Mouse Locomotor Activity

(2009) Laskaro Zagoraiou et al.   NEURON

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy

(2008) Mitchell R Lunn et al.   LANCET