| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Umrao R Monani | |
| P433 | issue | 6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | spinal muscular atrophy | Q580290 |
| muscular atrophy | Q2844600 | ||
| P304 | page(s) | 885-896 | |
| P577 | publication date | 2005-12-01 | |
| P1433 | published in | Neuron | Q3338676 |
| P1476 | title | Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease | |
| P478 | volume | 48 |
| Q38956614 | 'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1. |
| Q36118011 | A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. |
| Q41812335 | A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). |
| Q34964785 | A cell system for phenotypic screening of modifiers of SMN2 gene expression and function |
| Q34341178 | A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2. |
| Q27313604 | A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila |
| Q39350652 | A novel morpholino oligomer targeting ISS-N1 improves rescue of severe spinal muscular atrophy transgenic mice |
| Q28586960 | A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy |
| Q28260224 | Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases |
| Q55316384 | An open source tool for automatic spatiotemporal assessment of calcium transients and local 'signal-close-to-noise' activity in calcium imaging data. |
| Q35665186 | Antisense oligonucleotides shed new light on the pathogenesis and treatment of spinal muscular atrophy |
| Q45982116 | Brief report: phenotypic rescue of induced pluripotent stem cell-derived motoneurons of a spinal muscular atrophy patient. |
| Q46519993 | CK-2127107 amplifies skeletal muscle response to nerve activation in humans. |
| Q36659685 | Cell-autonomous axon growth of young motoneurons is triggered by a voltage-gated sodium channel |
| Q36777301 | Chaperoning ribonucleoprotein biogenesis in health and disease |
| Q62560269 | Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy |
| Q99557376 | Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease |
| Q47867123 | Compensatory axon sprouting for very slow axonal die-back in a transgenic model of spinal muscular atrophy type III. |
| Q55283275 | Current Methods for Skeletal Muscle Tissue Repair and Regeneration. |
| Q45009715 | Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion. |
| Q39751507 | Defective Ca2+ channel clustering in axon terminals disturbs excitability in motoneurons in spinal muscular atrophy |
| Q58794833 | Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy |
| Q24309626 | Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression |
| Q38318922 | Design principles for bifunctional targeted oligonucleotide enhancers of splicing |
| Q37035709 | Detection of human survival motor neuron (SMN) protein in mice containing the SMN2 transgene: applicability to preclinical therapy development for spinal muscular atrophy |
| Q37810374 | Developments in RNA splicing and disease |
| Q38704353 | Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy. |
| Q38107799 | Disease modeling and drug screening for neurological diseases using human induced pluripotent stem cells |
| Q34022667 | Drosophila melanogaster in the study of human neurodegeneration |
| Q48118155 | Effects of Astroglia on Motor Neurons in Spinal Muscular Atrophy. |
| Q37255468 | Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy. |
| Q33640124 | Electrophysiological properties of motor neurons in a mouse model of severe spinal muscular atrophy: in vitro versus in vivo development |
| Q51826765 | Emerging treatment options for spinal muscular atrophy. |
| Q60922133 | Enhancing GABAergic Transmission Improves Locomotion in a Model of Spinal Muscular Atrophy |
| Q37293368 | Fibroblast growth factor-2 regulates the stability of nuclear bodies |
| Q37461029 | Focal nature of neurological disorders necessitates isotype-selective histone deacetylase (HDAC) inhibitors |
| Q34264572 | Functional neuromuscular junctions formed by embryonic stem cell-derived motor neurons |
| Q37682281 | Gene activation of SMN by selective disruption of lncRNA-mediated recruitment of PRC2 for the treatment of spinal muscular atrophy |
| Q36302096 | Genetic inhibition of JNK3 ameliorates spinal muscular atrophy |
| Q36575025 | Genetics of motor neuron disease |
| Q28471859 | Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets |
| Q41457078 | Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells |
| Q33323473 | High throughput screening for neurodegeneration and complex disease phenotypes |
| Q30494460 | High-efficiency transfection of cultured primary motor neurons to study protein localization, trafficking, and function |
| Q36972709 | Human pathologies associated with defective RNA transport and localization in the nervous system |
| Q24319069 | IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1) |
| Q57657576 | Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach |
| Q57286077 | Impaired myogenic development, differentiation and function in hESC-derived SMA myoblasts and myotubes |
| Q28116617 | In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein |
| Q48013661 | In vitro study of axonal migration and myelination of motor neurons in a three-dimensional tissue-engineered model |
| Q33355418 | Inactivation of the SMN complex by oxidative stress |
| Q29614340 | Induced pluripotent stem cells from a spinal muscular atrophy patient |
| Q35758087 | Inhibition of U snRNP assembly by a virus-encoded proteinase |
| Q33968365 | Interferon stimulated exonuclease gene 20 kDa links psychiatric events to distinct hepatitis C virus responses in human immunodeficiency virus positive patients |
| Q33713769 | Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons |
| Q45865368 | Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice |
| Q26774987 | Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications? |
| Q34431129 | Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy |
| Q39039061 | Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective |
| Q29615084 | Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches |
| Q36932883 | Mechanisms of axon degeneration: from development to disease |
| Q35540393 | Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents |
| Q21562542 | Modeling spinal muscular atrophy in Drosophila |
| Q35003601 | Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling |
| Q26752798 | Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy |
| Q34329535 | Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population |
| Q36924730 | Molecular functions of the SMN complex |
| Q101564362 | Molecular landscape of long noncoding RNAs in brain disorders |
| Q36676833 | Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity |
| Q39733042 | Motor neuron mitochondrial dysfunction in spinal muscular atrophy |
| Q36074475 | Multiple effects of curcumin on promoting expression of the exon 7-containing SMN2 transcript. |
| Q42123203 | Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons |
| Q35126847 | Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons |
| Q36083144 | Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies |
| Q38222192 | Nervous translation, do you get the message? A review of mRNPs, mRNA-protein interactions and translational control within cells of the nervous system |
| Q51744183 | Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology. |
| Q38197609 | Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond |
| Q64819927 | Neurotheranostics as personalized medicines |
| Q28068242 | Non-Viral Nucleic Acid Delivery Strategies to the Central Nervous System |
| Q35423634 | Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy. |
| Q50043523 | Overlapping Role of SCYL1 and SCYL3 in Maintaining Motor Neuron Viability. |
| Q28572155 | Oxidative stress in the denervated muscle |
| Q37670613 | Perspectives and diagnostic considerations in spinal muscular atrophy |
| Q30503157 | Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. |
| Q27489807 | Progress toward therapy with antisense-mediated splicing modulation |
| Q34281605 | RNA helicases in infection and disease |
| Q37155206 | RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond |
| Q30407124 | Rasch analysis of clinical outcome measures in spinal muscular atrophy. |
| Q39233232 | Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy. |
| Q37294764 | Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy |
| Q34152015 | 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 |
| Q41969892 | Regulation of Fasciclin II and synaptic terminal development by the splicing factor beag |
| Q36983419 | Regulation of motor neuron specification by phosphorylation of neurogenin 2 |
| Q50517797 | Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy. |
| Q34762623 | Repair of pre-mRNA splicing: prospects for a therapy for spinal muscular atrophy. |
| Q30569780 | Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. |
| Q33300324 | Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs |
| Q38896526 | Role of FET proteins in neurodegenerative disorders |
| Q36934614 | SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain |
| Q36746476 | SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing |
| Q42283055 | SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy |
| Q36065456 | SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA. |
| Q29013847 | SMN in spinal muscular atrophy and snRNP biogenesis |
| Q40314348 | SMN, the product of the spinal muscular atrophy-determining gene, is expressed widely but selectively in the developing human forebrain |
| Q34312156 | SMN-inducing compounds for the treatment of spinal muscular atrophy |
| Q34478749 | SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice |
| Q28551647 | Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides |
| Q35605208 | Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy |
| Q27312220 | Skeletal muscle DNA damage precedes spinal motor neuron DNA damage in a mouse model of Spinal Muscular Atrophy (SMA) |
| Q28536678 | Small molecule suppressors of Drosophila kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy |
| Q39179444 | Spatially and temporally regulating translation via mRNA-binding proteins in cellular and neuronal function. |
| Q64904617 | Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy. |
| Q49059047 | Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches |
| Q34623310 | Spinal muscular atrophy: a time for screening |
| Q35029616 | Spinal muscular atrophy: from tissue specificity to therapeutic strategies |
| Q33819144 | Spinal muscular atrophy: new and emerging insights from model mice |
| Q37426472 | Splicing therapeutics in SMN2 and APOB. |
| Q37800936 | Stem cell-derived neurotrophic support for the neuromuscular junction in spinal muscular atrophy. |
| Q36191411 | Structural determinants for alternative splicing regulation of the MAPT pre-mRNA |
| Q27647351 | Structural insights into the interaction of the evolutionarily conserved ZPR1 domain tandem with eukaryotic EF1A, receptors, and SMN complexes |
| Q47073257 | Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. |
| Q92416237 | Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1 |
| Q27312456 | Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy |
| Q37875033 | Synaptic defects in spinal muscular atrophy animal models |
| Q36658903 | Targeted axonal import (TAxI) peptide delivers functional proteins into spinal cord motor neurons after peripheral administration |
| Q81947132 | Targeting angiogenin in therapy of amyotropic lateral sclerosis |
| Q35155645 | Tetanus toxin C-fragment: the courier and the cure? |
| Q30499358 | The COPI vesicle complex binds and moves with survival motor neuron within axons |
| Q89965003 | The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs |
| Q79828985 | The SMN binding protein Gemin2 is not involved in motor axon outgrowth |
| Q94503668 | The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases |
| Q38214063 | The emerging roles of DOT1L in leukemia and normal development |
| Q37128359 | The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy |
| Q43143539 | The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy |
| Q89448122 | The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys |
| Q34706897 | The role of CELF proteins in neurological disorders. |
| Q24301061 | The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy |
| Q28570605 | 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. |
| Q47237946 | Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy. |
| Q42126154 | Tirasemtiv amplifies skeletal muscle response to nerve activation in humans |
| Q36158983 | Triptolide increases transcript and protein levels of survival motor neurons in human SMA fibroblasts and improves survival in SMA-like mice |
| Q36481846 | Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron |
| Q93134481 | ZPR1-Dependent Neurodegeneration Is Mediated by the JNK Signaling Pathway |
| Q37215293 | microRNAs: tiny regulators of synapse function in development and disease |
| Q36331590 | α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth |
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