scholarly article | Q13442814 |
P50 | author | Matthew D Howell | Q56997627 |
P2093 | author name string | Ravindra N Singh | |
Natalia N Singh | |||
P2860 | cites work | Elk-1 a transcription factor with multiple facets in the brain | Q21129371 |
Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid | Q21261395 | ||
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy | Q21560963 | ||
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy | Q21562176 | ||
The scavenger mRNA decapping enzyme DcpS is a member of the HIT family of pyrophosphatases | Q24305331 | ||
The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy. | Q24307665 | ||
Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly | Q24319038 | ||
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. | Q24539804 | ||
A positive modifier of spinal muscular atrophy in the SMN2 gene | Q24646149 | ||
Spinal muscular atrophy: from gene discovery to clinical trials | Q26824894 | ||
Histone deacetylase inhibitors as potential treatment for spinal muscular atrophy | Q26828876 | ||
Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA | Q27496630 | ||
Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy | Q28137718 | ||
Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? | Q28214361 | ||
Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. | Q28243993 | ||
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor | Q84473937 | ||
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 | Q84970421 | ||
A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy | Q28244480 | ||
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity | Q28274685 | ||
Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery | Q28288188 | ||
The SMN complex: an assembly machine for RNPs | Q28294580 | ||
Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy | Q28301395 | ||
Regulation of SMN protein stability | Q28304878 | ||
Phase II open label study of valproic acid in spinal muscular atrophy | Q28475498 | ||
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. | Q28570605 | ||
Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 | ||
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy | Q29617367 | ||
Hypomutability at the polyadenine tract in SMN intron 3 shows the invariability of the a-SMN protein structure. | Q30367715 | ||
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy | Q30493891 | ||
The COPI vesicle complex binds and moves with survival motor neuron within axons | Q30499358 | ||
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. | Q30503157 | ||
Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy | Q30511954 | ||
Temporal requirement for SMN in motoneuron development. | Q30540382 | ||
The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models | Q30546337 | ||
Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. | Q30569780 | ||
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7. | Q31096071 | ||
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon | Q33278100 | ||
Identification of survival motor neuron as a transcriptional activator-binding protein. | Q33292104 | ||
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. | Q33864982 | ||
An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing | Q33867447 | ||
A screen for regulators of survival of motor neuron protein levels | Q33936321 | ||
A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy | Q34001036 | ||
TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy | Q34156826 | ||
Temporal requirement for high SMN expression in SMA mice | Q34192528 | ||
A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse | Q34241874 | ||
A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients | Q34297206 | ||
Intramuscular scAAV9-SMN injection mediates widespread gene delivery to the spinal cord and decreases disease severity in SMA mice. | Q34321271 | ||
Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population | Q34329535 | ||
Antisense oligonucleotides for the treatment of spinal muscular atrophy | Q34336279 | ||
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy | Q34353103 | ||
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron | Q34353625 | ||
Spinal muscular atrophy: an update on therapeutic progress | Q37302832 | ||
Antisense oligonucleotide mediated therapy of spinal muscular atrophy | Q37320544 | ||
Antisense technology: an emerging platform for cardiovascular disease therapeutics | Q37337608 | ||
Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. | Q37353218 | ||
More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases. | Q37400655 | ||
The advent of AAV9 expands applications for brain and spinal cord gene delivery | Q38004089 | ||
Working together: combinatorial regulation by microRNAs | Q38078857 | ||
Therapeutic targeting of non-coding RNAs | Q38119545 | ||
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? | Q38123249 | ||
A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches | Q38295041 | ||
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. | Q38301685 | ||
Redirecting splicing with bifunctional oligonucleotides. | Q38310108 | ||
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. | Q38325235 | ||
Purification of the human SMN-GEMIN2 complex and assessment of its stimulation of RAD51-mediated DNA recombination reactions | Q38333677 | ||
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients | Q38872000 | ||
A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice | Q39350652 | ||
Phosphorylation regulates the activity of the SMN complex during assembly of spliceosomal U snRNPs. | Q40107820 | ||
Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. | Q40196235 | ||
Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene | Q40293042 | ||
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. | Q40480552 | ||
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. | Q40484524 | ||
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. | Q40741164 | ||
Correlation between severity and SMN protein level in spinal muscular atrophy | Q41102726 | ||
RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN | Q41275236 | ||
Shift from extracellular signal-regulated kinase to AKT/cAMP response element-binding protein pathway increases survival-motor-neuron expression in spinal-muscular-atrophy-like mice and patient cells. | Q42690511 | ||
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA. | Q42789886 | ||
In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice. | Q42925761 | ||
Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype | Q43105089 | ||
The SMN genes are subject to transcriptional regulation during cellular differentiation | Q43815591 | ||
The Tudor protein survival motor neuron (SMN) is a chromatin-binding protein that interacts with methylated lysine 79 of histone H3. | Q44019924 | ||
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? | Q44068875 | ||
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy | Q44329621 | ||
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene | Q44519563 | ||
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. | Q44669542 | ||
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. | Q44961592 | ||
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice | Q45865368 | ||
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. | Q45867775 | ||
Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy | Q46825195 | ||
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number | Q46969503 | ||
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells | Q47431781 | ||
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations | Q48170209 | ||
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. | Q51130842 | ||
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. | Q52598269 | ||
Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. | Q54221499 | ||
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. | Q54560146 | ||
SMN deficiency reduces cellular ability to form stress granules, sensitizing cells to stress. | Q55053799 | ||
A novel function for the survival motoneuron protein as a translational regulator | Q58379271 | ||
Preclinical research: Make mouse studies work | Q59058234 | ||
Detection of novel mutations in the SMN Tudor domain in type I SMA patients | Q61806611 | ||
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I | Q71902152 | ||
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients | Q73169000 | ||
Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy | Q73583326 | ||
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7 | Q73583367 | ||
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy | Q73588971 | ||
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA | Q73940792 | ||
Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families | Q74561322 | ||
An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy | Q75431784 | ||
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations | Q77886714 | ||
A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins | Q80114053 | ||
Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity | Q81303651 | ||
A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies | Q83756965 | ||
In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes | Q34365948 | ||
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling | Q34389556 | ||
The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements | Q34389567 | ||
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. | Q34407787 | ||
Initial testing (stage 1) of AZD6244 (ARRY-142886) by the Pediatric Preclinical Testing Program. | Q34415484 | ||
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? | Q34425819 | ||
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). | Q34426727 | ||
A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes | Q34490238 | ||
Synthesis and characterization of pseudocantharidins, novel phosphatase modulators that promote the inclusion of exon 7 into the SMN (survival of motoneuron) pre-mRNA | Q34695541 | ||
Improved antisense oligonucleotide design to suppress aberrant SMN2 gene transcript processing: towards a treatment for spinal muscular atrophy | Q34695728 | ||
Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. | Q35064376 | ||
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy | Q35069526 | ||
Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A. | Q35072081 | ||
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number | Q35250646 | ||
Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model | Q35327028 | ||
Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene | Q35567374 | ||
Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model | Q35578535 | ||
Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesis. | Q35629448 | ||
An intronic element contributes to splicing repression in spinal muscular atrophy. | Q35652570 | ||
Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy | Q35675298 | ||
Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy | Q35892582 | ||
Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. | Q35990221 | ||
Human axonal survival of motor neuron (a-SMN) protein stimulates axon growth, cell motility, C-C motif ligand 2 (CCL2), and insulin-like growth factor-1 (IGF1) production | Q36122082 | ||
The Akt-SRPK-SR axis constitutes a major pathway in transducing EGF signaling to regulate alternative splicing in the nucleus | Q36161960 | ||
Gene therapy for muscular dystrophy: lessons learned and path forward | Q36382790 | ||
Silencing of microRNA families by seed-targeting tiny LNAs | Q36522844 | ||
Defective splicing, disease and therapy: searching for master checkpoints in exon definition. | Q36541361 | ||
Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle | Q36559321 | ||
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice | Q36718923 | ||
Spinal muscular atrophy diagnostics | Q36924710 | ||
Molecular functions of the SMN complex | Q36924730 | ||
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy | Q37006949 | ||
The DcpS inhibitor RG3039 improves motor function in SMA mice. | Q37193900 | ||
An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy | Q37197829 | ||
P433 | issue | 9 | |
P921 | main subject | spinal muscular atrophy | Q580290 |
P304 | page(s) | 1081-1099 | |
P577 | publication date | 2014-06-01 | |
P1433 | published in | Future Medicinal Chemistry | Q19280078 |
P1476 | title | Advances in therapeutic development for spinal muscular atrophy | |
P478 | volume | 6 |