Search Results - O'Callaghan, Benjamin

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  1. 1
    The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents

    The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents by Wu, Zhiyi, Lape, Remigijus, Jopp‐Saile, Lea, O'Callaghan, Benjamin J., Greiner, Timo, Sivilotti, Lucia G.

    Published 2020
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  2. 2
    Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction

    Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction by Pocratsky, Amanda M., Nascimento, Filipe, Özyurt, M. Görkem, White, Ian J., Sullivan, Roisin, O’Callaghan, Benjamin J., Smith, Calvin C., Surana, Sunaina, Beato, Marco, Brownstone, Robert M.

    Published 2023
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  3. 3
    ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms

    ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms by Hostettler, Isabel C., O'Callaghan, Benjamin, Bugiardini, Enrico, O'Connor, Emer, Vandrovcova, Jana, Davagnanam, Indran, Alg, Varinder, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin M., Grieve, Joan, Werring, David J., Houlden, Henry

    Published 2021
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  4. 4
    A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

    A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms by Sampedro Castañeda, Marisol, Zanoteli, Edmar, Scalco, Renata S, Scaramuzzi, Vinicius, Marques Caldas, Vitor, Conti Reed, Umbertina, da Silva, Andre Macedo Serafim, O’Callaghan, Benjamin, Phadke, Rahul, Bugiardini, Enrico, Sud, Richa, McCall, Samuel, Hanna, Michael G, Poulsen, Hanne, Männikkö, Roope, Matthews, Emma

    Published 2018
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  5. 5
    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification by Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

    Published 2020
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