| P50 | author | Michael Sendtner | Q32426109 |
| P2093 | author name string | S Jablonka | |
| P2860 | cites work | Altered intracellular Ca2+ homeostasis in nerve terminals of severe spinal muscular atrophy mice. | Q47807997 |
| | Disruption of SMN function by ectopic expression of the human SMN gene in Drosophila. | Q47808364 |
| | The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. | Q48382639 |
| | An essential role for beta-actin mRNA localization and translation in Ca2+-dependent growth cone guidance | Q48419140 |
| | Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model | Q52598269 |
| | Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons | Q53151357 |
| | The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin | Q54560146 |
| | Ciliary neurotrophic factor-induced sprouting preserves motor function in a mouse model of mild spinal muscular atrophy | Q60215178 |
| | Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III | Q60215386 |
| | Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model | Q61875385 |
| | International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) | Q67481178 |
| | Neuronal cell lineages in the nematode Caenorhabditis elegans | Q70940180 |
| | Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? | Q73064263 |
| | The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy | Q77541901 |
| | Animal models of spinal muscular atrophy | Q80970001 |
| | 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 | Q81385781 |
| | Critical Role of PI3K/Akt/GSK3β in Motoneuron Specification from Human Neural Stem Cells in Response to FGF2 and EGF | Q21090994 |
| | Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy | Q21144988 |
| | A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing | Q22008514 |
| | ZBP1 recognition of beta-actin zipcode induces RNA looping | Q24295827 |
| | The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins | Q24316085 |
| | The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis | Q24316121 |
| | A large animal model of spinal muscular atrophy and correction of phenotype | Q27340106 |
| | SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination | Q28115292 |
| | Development of the vertebrate neuromuscular junction | Q28141504 |
| | 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 |
| | A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity | Q28274685 |
| | 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 |
| | Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons | Q28576647 |
| | Depolarization drives beta-Catenin into neuronal spines promoting changes in synaptic structure and function | Q28579954 |
| | 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 |
| | Netrin signal transduction and the guanine nucleotide exchange factor DOCK180 in attractive signaling | Q30443470 |
| | SMN is required for sensory-motor circuit function in Drosophila | Q30525692 |
| | C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons | Q42425843 |
| | PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons | Q43043778 |
| | The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy | Q43569750 |
| | Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy | Q43932877 |
| | Neuromuscular defects in a Drosophila survival motor neuron gene mutant. | Q44463867 |
| | Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. | Q45350511 |
| | Moving towards treatments for spinal muscular atrophy: hopes and limits | Q45875383 |
| | Retrograde regulation of motoneuron differentiation by muscle beta-catenin | Q46751650 |
| | Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy | Q46861362 |
| | The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. | Q47068856 |
| | The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons | Q47073239 |
| | Temporal requirement for SMN in motoneuron development. | Q30540382 |
| | Spinal muscular atrophy. | Q33345749 |
| | The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England | Q33585740 |
| | Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy | Q33588368 |
| | Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? | Q33785933 |
| | The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly | Q33858798 |
| | 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 |
| | SMN requirement for synaptic vesicle, active zone and microtubule postnatal organization in motor nerve terminals | Q34056100 |
| | Complex cells in the cat striate cortex have multiple disparity detectors in the three-dimensional binocular receptive fields. | Q34143374 |
| | 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 | Q34152015 |
| | A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse | Q34241874 |
| | Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron | Q34353625 |
| | Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation | Q34363918 |
| | Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons | Q34388403 |
| | 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 |
| | Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System | Q34439726 |
| | SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice | Q34478749 |
| | ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy | Q34555103 |
| | Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy | Q34602175 |
| | SMN regulates axonal local translation via miR-183/mTOR pathway | Q34736851 |
| | SMN deficiency alters Nrxn2 expression and splicing in zebrafish and mouse models of spinal muscular atrophy | Q35039158 |
| | Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates | Q35153080 |
| | Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy | Q35221624 |
| | Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model | Q35327028 |
| | Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. | Q35567371 |
| | Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy | Q35605208 |
| | A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects. | Q36119636 |
| | Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons. | Q36293324 |
| | Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions | Q36297097 |
| | Neurotrophin regulation of beta-actin mRNA and protein localization within growth cones | Q36310756 |
| | A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. | Q36323111 |
| | FUS-SMN protein interactions link the motor neuron diseases ALS and SMA | Q36354418 |
| | Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos | Q36578997 |
| | Spliceosome integrity is defective in the motor neuron diseases ALS and SMA | Q36602121 |
| | Whole transcriptome profiling reveals the RNA content of motor axons | Q36627858 |
| | Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice | Q36718923 |
| | SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing | Q36746476 |
| | Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy | Q37006949 |
| | An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy | Q37197829 |
| | The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype | Q37231423 |
| | Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy | Q37294764 |
| | Embryonic motor axon development in the severe SMA mouse | Q37294791 |
| | Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice | Q37352940 |
| | Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. | Q37353218 |
| | Developmental arrest of Drosophila survival motor neuron (Smn) mutants accounts for differences in expression of minor intron-containing genes | Q37365336 |
| | Dynamics of survival of motor neuron (SMN) protein interaction with the mRNA-binding protein IMP1 facilitates its trafficking into motor neuron axons | Q37529892 |
| | RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns | Q37577398 |
| | Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy | Q37679959 |
| | Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction. | Q38013370 |
| | SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease. | Q38207417 |
| | Neurotrophin-induced transport of a beta-actin mRNP complex increases beta-actin levels and stimulates growth cone motility. | Q38297849 |
| | A mouse model for spinal muscular atrophy | Q38316939 |
| | Advances in modeling and treating spinal muscular atrophy | Q38912516 |
| | Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons | Q38936817 |
| | Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy | Q39751507 |
| | Spatial regulation of beta-actin translation by Src-dependent phosphorylation of ZBP1. | Q40347909 |
| | SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. | Q40805995 |
| | 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 |
| | The neurobiology of childhood spinal muscular atrophy. | Q41489423 |
| | An SMN-dependent U12 splicing event essential for motor circuit function | Q41856470 |
| | Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. | Q41902867 |
| | Phosphorylation of zipcode binding protein 1 is required for brain-derived neurotrophic factor signaling of local beta-actin synthesis and growth cone turning. | Q42024647 |
| | Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons | Q42123203 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | spinal muscular atrophy | Q580290 |
| | pathophysiology | Q1135939 |
| P577 | publication date | 2017-05-30 | |
| P13046 | publication type of scholarly work | review article | Q7318358 |
| P1433 | published in | Gene Therapy | Q15763095 |
| P1476 | title | Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy | |