Hasil Pencarian - Kathleen J Sweadner

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  1. 1
    Na,K-ATPase Expression Can Be Limited Post-Transcriptionally: A Test of the Role of the Beta Subunit, and a Review of Evidence

    Na,K-ATPase Expression Can Be Limited Post-Transcriptionally: A Test of the Role of the Beta Subunit, and a Review of Evidence oleh Elena Arystarkhova, Kathleen J. Sweadner

    Diterbitkan 2024-07-01
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  2. 2
    Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport.

    Impaired AQP2 trafficking in Fxyd1 knockout mice: A role for FXYD1 in regulated vesicular transport. oleh Elena Arystarkhova, Richard Bouley, Yi Bessie Liu, Kathleen J Sweadner

    Diterbitkan 2017-01-01
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  3. 3
    ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

    ATP1A3 Mutation in Adult Rapid-Onset Ataxia. oleh Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear

    Diterbitkan 2016-01-01
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  4. 4
    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1 oleh Yi Bessie Liu, Ambika Tewari, Johnny Salameh, Elena Arystarkhova, Thomas G Hampton, Allison Brashear, Laurie J Ozelius, Kamran Khodakhah, Kathleen J Sweadner

    Diterbitkan 2015-12-01
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  5. 5
    Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

    Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition oleh Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner

    Diterbitkan 2019-12-01
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  6. 6
    Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes

    Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes oleh Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear

    Diterbitkan 2023-01-01
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  7. 7
    De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

    De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome oleh Alcy Torres, Catherine A. Brownstein, Sahil K. Tembulkar, Kelsey Graber, Casie Genetti, Robin J. Kleiman, Kathleen J. Sweadner, Chrystal Mavros, Kevin X. Liu, Niklas Smedemark-Margulies, Kiran Maski, Edward Yang, Pankaj B. Agrawal, Jiahai Shi, Alan H. Beggs, Eugene D'Angelo, Sarah Hope Lincoln, Devon Carroll, Fatma Dedeoglu, William A. Gahl, Catherine M. Biggs, Kathryn J. Swoboda, Gerard T. Berry, Joseph Gonzalez-Heydrich

    Diterbitkan 2018-09-01
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