Search Results - Steven A. Skinner

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  1. 1
    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

    Neurobiologically-based treatments in Rett syndrome: opportunities and challenges by Walter E. Kaufmann, Jennifer L. Stallworth, David B. Everman, Steven A. Skinner

    Published 2016
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  2. 2
    Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

    Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings by Jeffrey L. Neul, Steven A. Skinner, Fran Annese, Jane B. Lane, Peter Heydemann, Mary Jones, Walter E. Kaufmann, Daniel G. Glaze, Alan K. Percy

    Published 2020
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  3. 3
    The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders

    The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders by Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Hye Seung Lee, Alan K. Percy

    Published 2015
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  4. 4
    Pubertal Development in Rett Syndrome Deviates From Typical Females

    Pubertal Development in Rett Syndrome Deviates From Typical Females by John T. Killian, Jane B. Lane, Gary Cutter, Steven A. Skinner, Walter E. Kaufmann, Daniel Tarquinio, Daniel G. Glaze, Kathleen J. Motil, Jeffrey L. Neul, Alan K. Percy

    Published 2014
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  5. 5
    Longitudinal course of epilepsy in Rett syndrome and related disorders

    Longitudinal course of epilepsy in Rett syndrome and related disorders by Daniel Tarquinio, Wei Hou, Anne T. Berg, Walter E. Kaufmann, Jane B. Lane, Steven A. Skinner, Kathleen J. Motil, Jeffrey L. Neul, Alan K. Percy, Daniel G. Glaze

    Published 2016
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  6. 6
    Behavioral profiles in Rett syndrome: Data from the natural history study

    Behavioral profiles in Rett syndrome: Data from the natural history study by Caroline B. Buchanan, Jennifer L. Stallworth, Alexandra E. Scott, Daniel G. Glaze, Jane B. Lane, Steven A. Skinner, Aubin E. Tierney, Alan K. Percy, Jeffrey L. Neul, Walter E. Kaufmann

    Published 2018
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  7. 7
    Epilepsy and the natural history of Rett syndrome

    Epilepsy and the natural history of Rett syndrome by Daniel G. Glaze, Alan K. Percy, Steven A. Skinner, Kathleen J. Motil, Jeffrey L. Neul, Judy O. Barrish, Jane B. Lane, Suzanne Geerts, Fran Annese, Joy Graham, Lauren McNair, H. -S. Lee

    Published 2010
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  8. 8
    Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

    Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome by Kathleen J. Motil, Erwin Caeg, Judy O. Barrish, Suzanne Geerts, Jane B. Lane, Alan K. Percy, Fran Annese, Lauren McNair, Steven A. Skinner, Hye‐Seung Lee, Jeffrey L. Neul, Daniel G. Glaze

    Published 2012
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  9. 9
    Profiling Scoliosis in Rett Syndrome

    Profiling Scoliosis in Rett Syndrome by Alan K. Percy, Hye‐Seung Lee, Jeffrey L. Neul, Jane B. Lane, Steven A. Skinner, Suzanne Geerts, Fran Annese, Joy Graham, Lauren McNair, Kathleen J. Motil, Judy O. Barrish, Daniel G. Glaze

    Published 2010
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  10. 10
    Pathogenesis of Lethal Cardiac Arrhythmias in <i>Mecp2</i> Mutant Mice: Implication for Therapy in Rett Syndrome

    Pathogenesis of Lethal Cardiac Arrhythmias in <i>Mecp2</i> Mutant Mice: Implication for Therapy in Rett Syndrome by Mark McCauley, Tiannan Wang, Elise V. Mike, José A. Herrera, David L. Beavers, Teng-Wei Huang, Christopher Ward, Steven A. Skinner, Alan K. Percy, Daniel G. Glaze, Xander H.T. Wehrens, Jeffrey L. Neul

    Published 2011
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  11. 11
    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases

    Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases by M. Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven A. Skinner, Nikhil Sahajpal, Vanessa Rodríguez‐Fanjul, Aaron A. Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger E. Stevenson, Aaron Bossler, Péter L. Nagy, Ravindra Kolhe

    Published 2023
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  12. 12
    Growth failure and outcome in Rett syndrome

    Growth failure and outcome in Rett syndrome by Daniel Tarquinio, Kathleen J. Motil, Wei Hou, Hye Seung Lee, Daniel G. Glaze, Steven A. Skinner, Jeffrey L. Neul, Fran Annese, Lauren McNair, Judy O. Barrish, Suzanne Geerts, Jane B. Lane, Alan K. Percy

    Published 2012
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  13. 13
    Rett syndrome diagnostic criteria: Lessons from the Natural History Study

    Rett syndrome diagnostic criteria: Lessons from the Natural History Study by Alan K. Percy, Jeffrey L. Neul, Daniel G. Glaze, Kathleen J. Motil, Steven A. Skinner, Omar Khwaja, Hye‐Seung Lee, Jane B. Lane, Judy O. Barrish, Fran Annese, Lauren McNair, Joy Graham, Katherine Barnes

    Published 2010
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  14. 14
    Developmental delay in Rett syndrome: data from the natural history study

    Developmental delay in Rett syndrome: data from the natural history study by Jeffrey L. Neul, Jane B. Lane, Hye Seung Lee, Suzanne Geerts, Judy O. Barrish, Fran Annese, Lauren Baggett, Katherine Barnes, Steven A. Skinner, Kathleen J. Motil, Daniel G. Glaze, Walter E. Kaufmann, Alan K. Percy

    Published 2014
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  15. 15
    The course of awake breathing disturbances across the lifespan in Rett syndrome

    The course of awake breathing disturbances across the lifespan in Rett syndrome by Daniel Tarquinio, Wei Hou, Jeffrey L. Neul, Gamze Kilic Berkmen, Jana B. Drummond, Elizabeth Aronoff, Jennifer A. Harris, Jane B. Lane, Walter E. Kaufmann, Kathleen J. Motil, Daniel G. Glaze, Steven A. Skinner, Alan K. Percy

    Published 2018
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  16. 16
    <i>Methyl-CpG-binding protein 2</i>(<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome

    <i>Methyl-CpG-binding protein 2</i>(<i>MECP2</i>) mutation type is associated with disease severity in Rett syndrome by Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B. Lane, Kathleen J. Motil, Steven A. Skinner, Daniel Tarquinio, Daniel G. Glaze, Gerald McGwin, Walter E. Kaufmann, Alan K. Percy, Jeffrey L. Neul, Michelle L. Olsen

    Published 2014
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  17. 17
    Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

    Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2 by Samin A. Sajan, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Daniel G. Glaze, Walter E. Kaufmann, Steven A. Skinner, Fran Annese, Michael J. Friez, Jane B. Lane, Alan K. Percy, Jeffrey L. Neul

    Published 2016
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  18. 18
    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice

    MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome–like Behaviors in Mice by Adam J. Harrington, Catherine Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y. Cho, Ahlem Assali, Benjamin M. Siemsen, Hannah W. Moore, Tsvetkov Ea, Acadia Thielking, Geneviève Konopka, David B. Everman, Michael D. Scofield, Steven A. Skinner, Christopher W. Cowan

    Published 2020
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  19. 19
    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations by Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Carlos A. Bacino, Steven A. Skinner, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Hye‐Seung Lee, Trilochan Sahoo, Susan E. Waisbren, Lynne M. Bird, Sarika U. Peters

    Published 2010
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  20. 20
    Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

    Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study by Jeffrey L. Neul, Tim A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, Steven A. Skinner, Peter Heydemann, Robin C. Ryther, Richard Haas, David N. Lieberman, A. Beisang, Timothy Feyma, Shannon M. Standridge

    Published 2023
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