Výsledky vyhledávání - O'Callaghan, Benjamin

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

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

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ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms Autor 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

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A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms Autor 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

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Autor 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

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