Rezultaty - Matthew E.R. Butchbach

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  1. 1
    Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases

    Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases od Matthew E.R. Butchbach

    Wydane 2016
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  2. 2
    Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development

    Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development od Matthew E.R. Butchbach

    Wydane 2021
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  3. 3
    Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy

    Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy od Matthew E.R. Butchbach, Jonathan Edwards, Arthur H.M. Burghes

    Wydane 2007
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  4. 4
    Association of Excitatory Amino Acid Transporters, Especially EAAT2, with Cholesterol-rich Lipid Raft Microdomains

    Association of Excitatory Amino Acid Transporters, Especially EAAT2, with Cholesterol-rich Lipid Raft Microdomains od Matthew E.R. Butchbach, Guilian Tian, Hong Guo, Chien‐liang Glenn Lin

    Wydane 2004
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  5. 5
    Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

    Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs od Francesca Gabanella, Matthew E.R. Butchbach, Luciano Saieva, Claudia Carissimi, Arthur H.M. Burghes, Livio Pellizzoni

    Wydane 2007
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  6. 6
    Translational Control of Glial Glutamate Transporter EAAT2 Expression

    Translational Control of Glial Glutamate Transporter EAAT2 Expression od Guilian Tian, Li‐Ching Lai, Hong Guo, Yuan Lin, Matthew E.R. Butchbach, Yueming Chang, Chien‐liang Glenn Lin

    Wydane 2006
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  7. 7
    Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells

    Transcriptome Profiling of Spinal Muscular Atrophy Motor Neurons Derived from Mouse Embryonic Stem Cells od Maeda Miho, Ashlee W. Harris, Brewster F. Kingham, Casey J. Lumpkin, Lynn M. Opdenaker, Suzanne M. McCahan, Wenlan Wang, Matthew E.R. Butchbach

    Wydane 2014
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  8. 8
    SMNΔ7, 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

    SMNΔ7, 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 od Thanh T. Le, Lan T. Pham, Matthew E.R. Butchbach, Honglai L. Zhang, Umrao R. Monani, Daniel D. Coovert, Tatiana Gavrilina, Lei Xing, Gary J. Bassell, Arthur H.M. Burghes

    Wydane 2005
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  9. 9
    Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing

    Protein phosphatase 1 binds to the RNA recognition motif of several splicing factors and regulates alternative pre-mRNA processing od Tatyana Novoyatleva, Bettina Heinrich, Yesheng Tang, Natalya Benderska, Matthew E.R. Butchbach, Christian L. Lorson, Monique A. Lorson, Claudia Ben-Dov, Pascale Fehlbaum, Laurent Bracco, Arthur H.M. Burghes, Mathieu Bollen, Stefan Stamm

    Wydane 2007
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  10. 10
    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

    Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data od Xiao Chen, Alba Sanchis‐Juan, Courtney E. French, Andrew J. Connell, Isabelle Delon, Zoya Kingsbury, Aditi Chawla, Aaron L. Halpern, Ryan J. Taft, David Bentley, Matthew E.R. Butchbach, F. Lucy Raymond, Michael A. Eberle

    Wydane 2020
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  11. 11
    Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy

    Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy od Matthew E.R. Butchbach, J. J. Singh, Margrét Þorsteinsdóttir, Luciano Saieva, Elzbieta Slominski, John B. Thurmond, Þorkell Andrésson, Jun Zhang, Jonathan Edwards, Louise R. Simard, Livio Pellizzoni, Jill Jarecki, Arthur H.M. Burghes, Mark E. Gurney

    Wydane 2009
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  12. 12
    <i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

    <i>SMN1</i> and <i>SMN2</i> copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR od Deborah L. Stabley, Ashlee W. Harris, Jennifer Holbrook, Nicholas J. Chubbs, Kevin W. Lozo, Thomas O. Crawford, Kathryn J. Swoboda, Vicky L. Funanage, Wenlan Wang, William G. Mackenzie, Mena Scavina, Katia Sol‐Church, Matthew E.R. Butchbach

    Wydane 2015
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  13. 13
    Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia

    Dystrophin glycoprotein complex dysfunction: A regulatory link between muscular dystrophy and cancer cachexia od Swarnali Acharyya, Matthew E.R. Butchbach, Zarife Sahenk, Huating Wang, Motoyasu Saji, Micheal Carathers, Matthew D. Ringel, Richard J.E. Skipworth, Kenneth C. H. Fearon, Michael A. Hollingsworth, Peter Muscarella, Arthur H.M. Burghes, Jill A. Rafael‐Fortney, Denis C. Guttridge

    Wydane 2005
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  14. 14
    NF-κB–mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia

    NF-κB–mediated Pax7 dysregulation in the muscle microenvironment promotes cancer cachexia od Wei He, Emanuele Berardi, Veronica Cardillo, Swarnali Acharyya, Paola Aulino, Jennifer M. Thomas‐Ahner, David J. Wang, Mark Bloomston, Peter Muscarella, Peter Nau, Nilay Shah, Matthew E.R. Butchbach, Katherine J. Ladner, Sergio Adamo, Michael A. Rudnicki, Charles Keller, Dario Coletti, Federica Montanaro, Denis C. Guttridge

    Wydane 2013
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