Astrocytes influence the severity of spinal muscular atrophy

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

(2014) Emily Cunningham Williams et al.   HUMAN MOLECULAR GENETICS

Mechanisms Involved in Spinal Cord Central Synapse Loss in a Mouse Model of Spinal Muscular Atrophy

(2014) Olga Tarabal et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2013) Jered V. McGivern et al.   GLIA

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

EZ spheres: A stable and expandable culture system for the generation of pre-rosette multipotent stem cells from human ESCs and iPSCs

(2013) Allison D. Ebert et al.   Stem Cell Research

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

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy

(2012) Andrew J-H. Lee et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy

(2011) Jacqueline J. Glascock et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN 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

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

(2011) Elisabet Dachs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2011) Yimin Hua et al.   NATURE

A role for glia in the progression of Rett’s syndrome

(2011) Daniel T. Lioy et al.   NATURE

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

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

(2011) George Z. Mentis et al.   NEURON

Prospects for the gene therapy of spinal muscular atrophy

(2011) Marco A. Passini et al.   TRENDS IN MOLECULAR MEDICINE

Mechanisms Underlying Inflammation in Neurodegeneration

(2010) Christopher K. Glass et al.   CELL

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

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

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

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

Specific disruption of astrocytic Ca2+ signaling pathway in vivo by adeno-associated viral transduction

(2010) Y. Xie et al.   NEUROSCIENCE

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

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

(2010) C. F. Valori et al.   Science Translational Medicine

Neuroscience: Glia — more than just brain glue

(2009) Nicola J. Allen et al.   NATURE

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

GFAPpromoter elements required for region-specific and astrocyte-specific expression

(2008) Youngjin Lee et al.   GLIA

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

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

(2008) Satoshi Kuru et al.   NEUROPATHOLOGY