Showing 1 - 7 results of 7 for search 'Robert L Macdonald', query time: 0.03s Refine Results
  1. 1
    Epileptic Encephalopathy <i>GABRB</i> Structural Variants Share Common Gating and Trafficking Defects

    Epileptic Encephalopathy <i>GABRB</i> Structural Variants Share Common Gating and Trafficking Defects by Ciria C. Hernandez, Ningning Hu, Wangzhen Shen, Robert L. Macdonald

    Published 2023-12-01
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  2. 2
    The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through

    The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon... by Xuan Huang, Mengnan Tian, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald

    Published 2012-10-01
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  3. 3
    Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

    Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald

    Published 2016-01-01
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  4. 4
    Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

    Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald

    Published 2016-01-01
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  5. 5
    <i>GABRG2</i> Variants Associated with Febrile Seizures

    <i>GABRG2</i> Variants Associated with Febrile Seizures by Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald

    Published 2023-02-01
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  6. 6
    A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

    A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes by Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees

    Published 2014-04-01
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  7. 7
    Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

    Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants by Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, John A. Capra

    Published 2022-10-01
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