Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature (2008) 12.21

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11

Multiple roles of HDAC inhibition in neurodegenerative conditions. Trends Neurosci (2009) 2.95

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest (2010) 2.62

The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol Cell Biol (2005) 2.23

Regulation of SMN protein stability. Mol Cell Biol (2008) 2.02

Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One (2009) 1.67

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet (2006) 1.62

Therapeutics development for spinal muscular atrophy. NeuroRx (2006) 1.62

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA (2004) 1.60

Therapeutic potential of mood stabilizers lithium and valproic acid: beyond bipolar disorder. Pharmacol Rev (2013) 1.52

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One (2010) 1.45

A microarray configuration to quantify expression levels and relative abundance of splice variants. Nucleic Acids Res (2005) 1.33

Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet (2006) 1.31

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet (2009) 1.30

The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet (2006) 1.27

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet (2008) 1.26

DcpS as a therapeutic target for spinal muscular atrophy. ACS Chem Biol (2008) 1.25

Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model. Hum Mol Genet (2009) 1.19

Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet (2009) 1.19

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. PLoS One (2011) 1.19

Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol (2014) 1.13

Induction of full-length survival motor neuron by polyphenol botanical compounds. Hum Genet (2007) 1.06

Short-chain fatty acids enhance nuclear receptor activity through mitogen-activated protein kinase activation and histone deacetylase inhibition. Proc Natl Acad Sci U S A (2004) 1.06

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA. Neurology (2007) 1.04

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR. Eur J Hum Genet (2010) 1.02

Histone deacetylases as targets for the treatment of human neurodegenerative diseases. Drug News Perspect (2009) 1.00

A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol (2006) 1.00

Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs. PLoS One (2009) 0.98

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet (2012) 0.96

Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy. Front Biosci (Landmark Ed) (2010) 0.96

Perspectives on clinical trials in spinal muscular atrophy. J Child Neurol (2007) 0.95

Splicing therapy for neuromuscular disease. Mol Cell Neurosci (2013) 0.95

Development of histone deacetylase inhibitors as therapeutics for neurological disease. Future Neurol (2009) 0.93

Spinal muscular atrophy: an update on therapeutic progress. Biochim Biophys Acta (2013) 0.93

Spinal muscular atrophy disease: a literature review for therapeutic strategies. J Med Life (2010) 0.92

Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics (2007) 0.92

Discovery, synthesis, and biological evaluation of novel SMN protein modulators. J Med Chem (2011) 0.91

A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol (2008) 0.89

Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy. RNA Biol (2010) 0.89

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III. BMC Med Genet (2011) 0.88

Therapy development in spinal muscular atrophy. Nat Neurosci (2010) 0.88

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy. Muscle Nerve (2014) 0.88

Hydroxyurea enhances SMN2 gene expression through nitric oxide release. Neurogenetics (2010) 0.88

Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy. J Neurosci Methods (2008) 0.87

Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid. BMC Neurol (2011) 0.87

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. Eur J Hum Genet (2011) 0.86

Stem cell model of spinal muscular atrophy. Arch Neurol (2010) 0.86

Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. Ther Adv Neurol Disord (2013) 0.86

Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay. J Biomol Screen (2012) 0.86

Spinal Muscular Atrophy Therapeutics: Where do we Stand? Neurotherapeutics (2015) 0.86

The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol (2011) 0.86

Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein. PLoS One (2012) 0.85

Activation of the stress proteome as a mechanism for small molecule therapeutics. Hum Mol Genet (2012) 0.85

Characterization of the survival motor neuron (SMN) promoter provides evidence for complex combinatorial regulation in undifferentiated and differentiated P19 cells. Biochem J (2005) 0.84

Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses. PLoS One (2011) 0.84

Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug-like compounds. EMBO Mol Med (2013) 0.84

Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy. Genet Mol Biol (2013) 0.84

Carboxylic acid derivatives of histone deacetylase inhibitors induce full length SMN2 transcripts: a promising target for spinal muscular atrophy therapeutics. Arch Med Sci (2011) 0.84

5p deletions: Current knowledge and future directions. Am J Med Genet C Semin Med Genet (2015) 0.84

When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy. Medchemcomm (2014) 0.83

Capturing Alzheimer's disease genomes with induced pluripotent stem cells: prospects and challenges. Genome Med (2011) 0.82

Proteomic analysis of peripheral leukocytes in Alzheimer's disease patients treated with divalproex sodium. Neurobiol Aging (2007) 0.81

A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PLoS One (2013) 0.80

Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci (2015) 0.80

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy. J Exp Neurosci (2016) 0.80

Biomarkers in rare disorders: the experience with spinal muscular atrophy. Int J Mol Sci (2010) 0.79

Insights into the activation mechanism of class I HDAC complexes by inositol phosphates. Nat Commun (2016) 0.78

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Exp Neurol (2016) 0.78

Therapy development for spinal muscular atrophy in SMN independent targets. Neural Plast (2012) 0.78

Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy. Neurotherapeutics (2013) 0.78

Histone Deacetylase (HDAC) Inhibitors - emerging roles in neuronal memory, learning, synaptic plasticity and neural regeneration. Curr Neuropharmacol (2016) 0.78

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Rep Neurol Med (2014) 0.77

Valproic Acid increases expression of neuronal stem/progenitor cell in spinal cord injury. J Korean Neurosurg Soc (2013) 0.76

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls. PLoS One (2016) 0.75

Systems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophy. PLoS One (2014) 0.75

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults. J Neuromuscul Dis (2015) 0.75

Splice-Switching Therapy for Spinal Muscular Atrophy. Genes (Basel) (2017) 0.75

Application of urine cells in drug intervention for spinal muscular atrophy. Exp Ther Med (2017) 0.75

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells. Front Pediatr (2017) 0.75

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Massive infection and loss of memory CD4+ T cells in multiple tissues during acute SIV infection. Nature (2005) 13.15

Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron (2010) 7.87

HDAC6 rescues neurodegeneration and provides an essential link between autophagy and the UPS. Nature (2007) 7.74

Toxic proteins in neurodegenerative disease. Science (2002) 5.82

Mutant dynactin in motor neuron disease. Nat Genet (2003) 5.28

SMNDelta7, 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. Hum Mol Genet (2005) 5.23

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol (2010) 4.62

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature (2013) 4.03

HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy. EMBO J (2010) 3.90

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet (2004) 3.72

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet (2003) 3.55

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons. Nat Biotechnol (2011) 3.45

Disease-causing mutations in parkin impair mitochondrial ubiquitination, aggregation, and HDAC6-dependent mitophagy. J Cell Biol (2010) 3.37

Predictors of opioid misuse in patients with chronic pain: a prospective cohort study. BMC Health Serv Res (2006) 3.28

Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest (2007) 3.11

Research capacity. Enabling the genomic revolution in Africa. Science (2014) 3.05

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. Autophagy (2010) 2.99

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations. J Neuropathol Exp Neurol (2007) 2.97

CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron (2013) 2.94

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. J Cell Biol (2003) 2.94

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein. Hum Mol Genet (2003) 2.89

Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia. Cancer Cell (2005) 2.73

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One (2007) 2.70

Altered ribostasis: RNA-protein granules in degenerative disorders. Cell (2013) 2.38

Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet (2010) 2.36

Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery. J Proteome Res (2010) 2.35

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet (2008) 2.35

Distal spinal and bulbar muscular atrophy caused by dynactin mutation. Ann Neurol (2005) 2.34

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol (2011) 2.27

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron (2009) 2.26

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med (2002) 2.26

Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther (2011) 2.20

SAP regulates T(H)2 differentiation and PKC-theta-mediated activation of NF-kappaB1. Immunity (2004) 2.18

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet (2011) 2.13

Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J Neurosci (2006) 2.11

Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis (2007) 2.10

A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol (2006) 2.08

Preferential infection and depletion of Mycobacterium tuberculosis-specific CD4 T cells after HIV-1 infection. J Exp Med (2010) 2.07

TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J Neurosci (2010) 2.05

Delay of T cell senescence by caloric restriction in aged long-lived nonhuman primates. Proc Natl Acad Sci U S A (2006) 2.03

Regulation of SMN protein stability. Mol Cell Biol (2008) 2.02

Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet (2010) 1.89

Eukaryotic stress granules are cleared by autophagy and Cdc48/VCP function. Cell (2013) 1.88

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci (2006) 1.87

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet (2008) 1.84

Embryonic motor axon development in the severe SMA mouse. Hum Mol Genet (2008) 1.79

Clinical features of spinal and bulbar muscular atrophy. Brain (2009) 1.75

Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron (2010) 1.75

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. J Cell Biol (2003) 1.75

Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection. Biochim Biophys Acta (2008) 1.73

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest (2004) 1.73

A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet (2009) 1.70

VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron (2013) 1.70

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone. Hum Mol Genet (2010) 1.64

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol (2007) 1.64

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain (2005) 1.63

HDAC6 at the intersection of autophagy, the ubiquitin-proteasome system and neurodegeneration. Autophagy (2007) 1.62

A primary care, multi-disciplinary disease management program for opioid-treated patients with chronic non-cancer pain and a high burden of psychiatric comorbidity. BMC Health Serv Res (2005) 1.58

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve (2009) 1.57

The role of histone acetylation in SMN gene expression. Hum Mol Genet (2005) 1.56

Mitochondrial abnormalities in spinal and bulbar muscular atrophy. Hum Mol Genet (2008) 1.56

Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum Mol Genet (2005) 1.52

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain (2010) 1.51

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43. Hum Mol Genet (2011) 1.47

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet (2009) 1.46

Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem Biol (2004) 1.45

Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet (2011) 1.44

A candidate gene for autoimmune myasthenia gravis. Neurology (2012) 1.44

Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor. Hum Mol Genet (2002) 1.41

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity. Hum Mol Genet (2007) 1.40

GARS axonopathy: not every neuron's cup of tRNA. Trends Neurosci (2010) 1.40

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Dis Model Mech (2010) 1.36

Therapeutics development for triplet repeat expansion diseases. Nat Rev Genet (2005) 1.34

Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing. Hum Mol Genet (2007) 1.33

Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes Dev (2003) 1.33

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. J Neurosci (2012) 1.32

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet (2009) 1.31

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2012) 1.30

A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res (2005) 1.29

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol (2002) 1.29

Flightless flies: Drosophila models of neuromuscular disease. Ann N Y Acad Sci (2010) 1.28

Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum Mol Genet (2009) 1.27

DcpS as a therapeutic target for spinal muscular atrophy. ACS Chem Biol (2008) 1.25

Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. PLoS Genet (2011) 1.25

Polyglutamines placed into context. Neuron (2003) 1.21

Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum Mol Genet (2002) 1.21

The role of autophagy in age-related neurodegeneration. Neurosignals (2007) 1.21

Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener (2013) 1.16

A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol (2011) 1.16

A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat (2012) 1.15

FOXO3a is broadly neuroprotective in vitro and in vivo against insults implicated in motor neuron diseases. J Neurosci (2009) 1.15