Related references
Note: Only part of the references are listed.Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds
Jonathan J. Cherry et al.
EMBO MOLECULAR MEDICINE (2013)
Global CNS gene delivery and evasion of anti-AAV-neutralizing antibodies by intrathecal AAV administration in non-human primates
S. J. Gray et al.
GENE THERAPY (2013)
A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice
Haiyan Zhou et al.
HUMAN GENE THERAPY (2013)
Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy
Paul N. Porensky et al.
HUMAN GENE THERAPY (2013)
COPI transport complexes bind to specific RNAs in neuronal cells
Adrian G. Todd et al.
HUMAN MOLECULAR GENETICS (2013)
Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation
Faraz Farooq et al.
HUMAN MOLECULAR GENETICS (2013)
Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice
Sofia Benkhelifa-Ziyyat et al.
MOLECULAR THERAPY (2013)
Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I
Richard S. Finkel
NEUROMUSCULAR DISORDERS (2013)
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
Chalermchai Mitrpant et al.
PLOS ONE (2013)
Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy
Jacqueline J. Glascock et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
Melissa Bowerman et al.
BMC MEDICINE (2012)
An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
Francesco Lotti et al.
CELL (2012)
SMN Is Required for Sensory-Motor Circuit Function in Drosophila
Wendy L. Imlach et al.
CELL (2012)
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens
Elaine A. Sugarman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs
T. Federici et al.
GENE THERAPY (2012)
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
Paul N. Porensky et al.
HUMAN MOLECULAR GENETICS (2012)
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
Monir Shababi et al.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY (2012)
Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction
Rocky G. Gogliotti et al.
JOURNAL OF NEUROSCIENCE (2012)
Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy
Tara L. Martinez et al.
JOURNAL OF NEUROSCIENCE (2012)
A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy
Matteo Ruggiu et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Electrical impedance myography in spinal muscular atrophy: A longitudinal study
Seward B. Rutkove et al.
MUSCLE & NERVE (2012)
Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3
Renske I. Wadman et al.
NEUROLOGY (2012)
Small molecule compounds correct alternative splicing of the SMN2 gene and restore SMN protein expression and function
N. Naryshkin et al.
NEUROMUSCULAR DISORDERS (2012)
Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Richard S. Finkel et al.
PLOS ONE (2012)
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
Thomas O. Crawford et al.
PLOS ONE (2012)
Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy
Stefania Corti et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Spinal Muscular Atrophy A Timely Review
Stephen J. Kolb et al.
ARCHIVES OF NEUROLOGY (2011)
Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy
Monir Shababi et al.
HUMAN GENE THERAPY (2011)
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
Elisa Dominguez et al.
HUMAN MOLECULAR GENETICS (2011)
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects
Lisa Hubers et al.
HUMAN MOLECULAR GENETICS (2011)
The COPI vesicle complex binds and moves with survival motor neuron within axons
Cyril Jayakumar Peter et al.
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
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)
The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons
Claudia Fallini et al.
JOURNAL OF NEUROSCIENCE (2011)
Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders
Adam K. Bevan 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)
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings
Sara Bernal et al.
NEUROMUSCULAR DISORDERS (2011)
Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy
George Z. Mentis et al.
NEURON (2011)
SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy
John T. Kissel et al.
PLOS ONE (2011)
Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy
Marco A. Passini et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Newborn and Carrier Screening for Spinal Muscular Atrophy
Thomas W. Prior et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
Stefania Corti et al.
BRAIN (2010)
Splicing of the Survival Motor Neuron genes and implications for treatment of SMA
Thomas W. Bebee et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (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)
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
Markus Riessland 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)
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
Melissa Bowerman 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)
The c.859G > C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
S. Bernal et al.
JOURNAL OF MEDICAL GENETICS (2010)
Trans-Splicing-Mediated Improvement in a Severe Mouse Model of Spinal Muscular Atrophy
Tristan H. Coady et al.
JOURNAL OF NEUROSCIENCE (2010)
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
Gyu-Hwan Park et al.
JOURNAL OF NEUROSCIENCE (2010)
COMPOUND MUSCLE ACTION POTENTIAL AND MOTOR FUNCTION IN CHILDREN WITH SPINAL MUSCULAR ATROPHY
Aga Lewelt et al.
MUSCLE & NERVE (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)
SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
PLOS ONE (2010)
Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy
Karen K. Y. Ling et al.
PLOS ONE (2010)
Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy
Chiara F. Valori et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene
Thomas W. Prior et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model
Virginia B. Mattis et al.
HUMAN MOLECULAR GENETICS (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)
Dendritic LSm1/CBP80-mRNPs mark the early steps of transport commitment and translational control
Alessandra di Penta et al.
JOURNAL OF CELL BIOLOGY (2009)
Clinical Outcome Measures in Spinal Muscular Atrophy
Jacqueline Montes et al.
JOURNAL OF CHILD NEUROLOGY (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)
Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice
Lingling Kong et al.
JOURNAL OF NEUROSCIENCE (2009)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons
Sandra Duque et al.
MOLECULAR THERAPY (2009)
Induced pluripotent stem cells from a spinal muscular atrophy patient
Allison D. Ebert et al.
NATURE (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)
Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy
Kathryn J. Swoboda et al.
PLOS ONE (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)
Sustained Improvement of Spinal Muscular Atrophy Mice Treated with Trichostatin A Plus Nutrition
Heather L. Narver et al.
ANNALS OF NEUROLOGY (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)
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
Stefania Corti et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
A natural history study of late onset spinal muscular atrophy types 3b and 4
S. Piepers et al.
JOURNAL OF NEUROLOGY (2008)
The effect of hydroxyurea in spinal muscular atrophy cells and patients
Wen-Chen Liang et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2008)
Daily salbutamol in young patients with SMA type II
Marika Pane et al.
NEUROMUSCULAR DISORDERS (2008)
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
Gabriela E. Oprea et al.
SCIENCE (2008)
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
C. Angelozzi et al.
JOURNAL OF MEDICAL 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)
Consensus statement for Standard of Care in Spinal Muscular Atrophy
Ching H. Wang et al.
JOURNAL OF CHILD NEUROLOGY (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)
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E. Mercuri et al.
NEUROLOGY (2007)
SMN mRNA and protein levels in peripheral blood - Biomarkers for SMA clinical trials
CJ Sumner et al.
NEUROLOGY (2006)
The survival of motor neurons protein determines the capacity for snRNP assembly: Biochemical deficiency in spinal muscular atrophy
LL Wan et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
Natural history of denervation in SMA:: Relation to age, SMN2 copy number, and function
KJ Swoboda et al.
ANNALS OF NEUROLOGY (2005)
Deletion of murine Smn Exon 7 directed to liver leads to severe defect of liver development associated with iron overload
JM Vitte et al.
AMERICAN JOURNAL OF PATHOLOGY (2004)
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)
Role of gabapentin in spinal muscular atrophy: Results of a multicenter, randomized Italian study
L Merlini et al.
JOURNAL OF CHILD NEUROLOGY (2003)
Neuromuscular defects in a Drosophila survival motor neuron gene mutant
YB Chan et al.
HUMAN MOLECULAR GENETICS (2003)
A phase 1 trial of Riluzole in spinal muscular atrophy
BS Russman et al.
ARCHIVES OF NEUROLOGY (2003)
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)
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy
C Cifuentes-Diaz et al.
JOURNAL OF 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)