SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical spinal muscular atrophy neuromuscular pathology

(2014) Melissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Observational study of spinal muscular atrophy type I and implications for clinical trials

(2014) R. S. Finkel et al.   NEUROLOGY

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

Intravenous AAV9 efficiently transduces myenteric neurons in neonate and juvenile mice

(2014) Sara E. Gombash et al.   Frontiers in Molecular Neuroscience

Enteric nervous system development: migration, differentiation, and disease

(2013) Jonathan I. Lake et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Ca2+ Responses in Enteric Glia Are Mediated by Connexin-43 Hemichannels and Modulate Colonic Transit in Mice

(2013) Jonathon L. McClain et al.   GASTROENTEROLOGY

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

(2013) Jered V. McGivern et al.   GLIA

Nutritional Practices at a Glance

(2013) Rebecca Hurst Davis et al.   JOURNAL OF CHILD NEUROLOGY

New Onset of Constipation during Long-Term Physical Inactivity: A Proof-of-Concept Study on the Immobility-Induced Bowel Changes

(2013) Paola Iovino et al.   PLoS One

Improvement of Neuromuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons

(2013) Ximena Paez-Colasante et al.   PLoS One

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Management and Pathophysiology of Functional Gastrointestinal Disorders

(2012) Shin Fukudo et al.   DIGESTION

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

(2012) Melissa Osborne 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

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

Novel functional roles for enteric glia in the gastrointestinal tract

(2012) Brian D. Gulbransen et al.   Nature Reviews Gastroenterology & Hepatology

Targeted deletion of Hand2 in enteric neural precursor cells affects its functions in neurogenesis, neurotransmitter specification and gangliogenesis, causing functional aganglionosis

(2011) J. Lei et al.   DEVELOPMENT

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

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

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

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi 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

Impact of disrupting adenosine A3 receptors (A3−/−AR) on colonic motility or progression of colitis in the mouse

(2010) Tianhua Ren et al.   INFLAMMATORY BOWEL DISEASES

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

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

The role of RNP biogenesis in spinal muscular atrophy

(2009) Ashwin Chari et al.   CURRENT OPINION IN CELL BIOLOGY

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