Hakutulokset - Robert L. Nussbaum

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  1. 1
    The Identification of Alpha-Synuclein as the First Parkinson Disease Gene

    The Identification of Alpha-Synuclein as the First Parkinson Disease Gene Tekijä Robert L. Nussbaum

    Julkaistu 2017
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  2. 2
    Genetics of Synucleinopathies

    Genetics of Synucleinopathies Tekijä Robert L. Nussbaum

    Julkaistu 2017
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  3. 3
    The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

    The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization Tekijä Sharon F. Suchy, Robert L. Nussbaum

    Julkaistu 2002
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  4. 4
    Alzheimer's Disease and Parkinson's Disease

    Alzheimer's Disease and Parkinson's Disease Tekijä Robert L. Nussbaum, Christopher E. Ellis

    Julkaistu 2003
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  5. 5
    Identification and Characterization of Golgin-84, a Novel Golgi Integral Membrane Protein with a Cytoplasmic Coiled-coil Domain

    Identification and Characterization of Golgin-84, a Novel Golgi Integral Membrane Protein with a Cytoplasmic Coiled-coil Domain Tekijä R.A. Bascom, Sudha Srinivasan, Robert L. Nussbaum

    Julkaistu 1999
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  6. 6
    Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms.

    Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. Tekijä D N Silver, Richard A. Lewis, Robert L. Nussbaum

    Julkaistu 1987
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  7. 7
    Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

    Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. Tekijä Jennifer M. Puck, Robert L. Nussbaum, Mary Ellen Conley

    Julkaistu 1987
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  8. 8
    A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease

    A single nucleotide polymorphism in the 3′UTR of the SNCA gene encoding alpha-synuclein is a new potential susceptibility locus for Parkinson disease Tekijä Sotiria Sotiriou, Gretchen Gibney, Andreas D. Baxevanis, Robert L. Nussbaum

    Julkaistu 2009
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  9. 9
    Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

    Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation Tekijä Ianai Fishbein, Yien–Ming Kuo, Benoit I. Giasson, Robert L. Nussbaum

    Julkaistu 2014
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  10. 10
    A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

    A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Tekijä Robert L. Nussbaum, W E Crowder, William L. Nyhan, C. Thomas Caskey

    Julkaistu 1983
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  11. 11
    Regulation of α-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene

    Regulation of α-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene Tekijä Ornit Chiba‐Falek, Jeffrey A. Kowalak, Mark E. Smulson, Robert L. Nussbaum

    Julkaistu 2005
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  12. 12
    Proteomics Analysis Identifies Phosphorylation-dependent α-Synuclein Protein Interactions

    Proteomics Analysis Identifies Phosphorylation-dependent α-Synuclein Protein Interactions Tekijä Melinda A. McFarland, Christopher E. Ellis, Sanford P. Markey, Robert L. Nussbaum

    Julkaistu 2008
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  13. 13
    Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin

    Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin Tekijä Kirsten N. Kangelaris, Stephen Bent, Robert L. Nussbaum, David García, Jeffrey A. Tice

    Julkaistu 2009
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  14. 14
    Type II phosphoinositide 5‐phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation

    Type II phosphoinositide 5‐phosphatases have unique sensitivities towards fatty acid composition and head group phosphorylation Tekijä Annette C. Schmid, Helen Wise, Christina A. Mitchell, Robert L. Nussbaum, Rüdiger Woscholski

    Julkaistu 2004
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  15. 15
    Heterogeneity of clinical severity and molecular lesions in Aircardi syndrome

    Heterogeneity of clinical severity and molecular lesions in Aircardi syndrome Tekijä Julie Neidich, Robert L. Nussbaum, Roger J. Packer, B S Emanuel, Jennifer M. Puck

    Julkaistu 1990
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  16. 16
    Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110α Subunit of Phosphoinositide 3-Kinase

    Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110α Subunit of Phosphoinositide 3-Kinase Tekijä Lei Bi, Ichiro Okabe, David J. Bernard, Anthony Wynshaw‐Boris, Robert L. Nussbaum

    Julkaistu 1999
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  17. 17
    α-Synuclein in gut endocrine cells and its implications for Parkinson’s disease

    α-Synuclein in gut endocrine cells and its implications for Parkinson’s disease Tekijä Rashmi Chandra, Annie Hiniker, Yien–Ming Kuo, Robert L. Nussbaum, Rodger A. Liddle

    Julkaistu 2017
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  18. 18
    Mitochondrial translocation of α-synuclein is promoted by intracellular acidification

    Mitochondrial translocation of α-synuclein is promoted by intracellular acidification Tekijä Nelson B. Cole, Diane DiEuliis, Paul Leo, Drake C. Mitchell, Robert L. Nussbaum

    Julkaistu 2008
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  19. 19
    Sources of discordance among germ-line variant classifications in ClinVar

    Sources of discordance among germ-line variant classifications in ClinVar Tekijä Shan Yang, Stephen E. Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L. Nussbaum, Scott Topper

    Julkaistu 2017
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  20. 20
    α-Synuclein Is Phosphorylated by Members of the Src Family of Protein-tyrosine Kinases

    α-Synuclein Is Phosphorylated by Members of the Src Family of Protein-tyrosine Kinases Tekijä Christopher E. Ellis, Pamela L. Schwartzberg, Teresa L. Grider, Donald W. Fink, Robert L. Nussbaum

    Julkaistu 2001
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