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Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesApplicability of digital PCR to the investigation of pediatric-onset genetic disordersMethyl-beta-cyclodextrin but not retinoic acid reduces EAAT3-mediated glutamate uptake and increases GTRAP3-18 expressionMolecular cloning, gene structure, expression profile and functional characterization of the mouse glutamate transporter (EAAT3) interacting protein GTRAP3-18A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophyEffects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophyProtective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice.Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cellsSMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCRThe effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy.NF-κB-mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia.Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy.Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing.Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy.The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cellsSystems biology investigation of cAMP modulation to increase SMN levels for the treatment of spinal muscular atrophyIdentification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisonsAssociation of excitatory amino acid transporters, especially EAAT2, with cholesterol-rich lipid raft microdomains: importance for excitatory amino acid transporter localization and function.Translational Control of Glial Glutamate Transporter EAAT2 ExpressionDystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexiaUsing Systems Biology and Mathematical Modeling Approaches in the Discovery of Therapeutic Targets for Spinal Muscular AtrophySMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMNTrans-splicing, more than meets the eye: multifaceted therapeutics for spinal muscular atrophySpinal muscular atrophy diagnosis and carrier screening from genome sequencing data
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description
researcher
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wetenschapper
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name
Matthew E R Butchbach
@en
Matthew E R Butchbach
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type
label
Matthew E R Butchbach
@en
Matthew E R Butchbach
@nl
prefLabel
Matthew E R Butchbach
@en
Matthew E R Butchbach
@nl
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0000-0003-2912-6400