PATH42 Lineage, clinical, genetic, structural and cellular characterisation of a novel epilepsy mutation von Johnston, J A, Davies, J S, Baer, K, Hammond, C L, Mullins, J G L, Cushion, T D, Chung, S K, Thomas, R H, Morris, H R, White, C, Smith, P E M, Rees, M I

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Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay von THOMAS, Rhys H, CHUNG, Seo-Kyung, WOOD, Sian E, CUSHION, Thomas D, DREW, Cheney J. G, HAMMOND, Carrie L, VANBELLINGHEN, Jean-Francois, MULLINS, Jonathan G. L, REES, Mark I

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GLRB is the third major gene of effect in hyperekplexia von Chung, S.-K., Bode, A., Cushion, T. D., Thomas, R. H., Hunt, C., Wood, S.-E., Pickrell, W. O., Drew, C. J. G., Yamashita, S., Shiang, R., Leiz, S., Longardt, A.-C., Raile, V., Weschke, B., Puri, R. D., Verma, I. C., Harvey, R. J., Ratnasinghe, D. D., Parker, M., Rittey, C., Masri, A., Lingappa, L., Howell, O. W., Vanbellinghen, J.-F., Mullins, J. G., Lynch, J. W., Rees, M. I.

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Polygenic risk and hazard scores for Alzheimer's disease prediction von Leonenko, G, Shoai, M, Frizzati, A, Bossu, P, Fox, NC, Williams, J, Tsolaki, M, Avramidou, D, Germanou, A, Love, S, McGuinness, B, Passmore, P, Warren, JD, Kawalia, A, Hughes, JT, Lupton, MK, Powell, J, Bonuccelli, U, Uphill, J, Fisher, E, Soininen, H, Bisceglio, G, Ma, L, Carrasquillo, MM, Daniilidou, M, Galimberti, D, Scarpini, E, Peters, O, Ramirez, A, Pichler, S, Riemenschneider, M, Heun, R, Kolsch, H, Heuser, I, Rujescu, D, Giegling, I, Hull, M, Lovestone, S, Cruchaga, C, Feulner, T, Holmes, C, Mann, D, Pickering-Brown, S, Livingston, G, Bass, NJ, Vronskaya, M, Morgan, T, Cushion, TD, Jones, L, Marshall, R, Grozeva, D, O'Donovan, MC, Owen, MJ, Russo, G, Maier, W, Jessen, F, Wichmann, H-E, Vellas, B, Vardy, E, Moebus, S, Dichgans, M, Klopp, N, Turton, J, Brown, K, Medway, C, Hoffmann, P, Daniele, A, Gallacher, J, van den Bussche, H, Brayne, C, Riedel-Heller, S, Powell, JF, Al-Chalabi, A, Pastor, P, Diez-Fairen, M, Lynch, A, Lawlor, B, Coto, E, Alvarez, V, Mead, S, Ryan, N, Nacmias, B, Rodriguez-Rodriguez, E, Sanchez-Juan, P, Shofany, J, Banaj, N, Sacchinelli, E, Smith, AD, Warden, D, Cupidi, C, Bruni, AC, Gallo, M, Harold, D, Cecchetti, R, Mecocci, P, Warner, N, Wilcock, G, Deloukas, P, Corcoran, C, Tschanz, J

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy von Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.

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Are members of the fungal genus pneumocystis (a) commensals; (b) opportunists; (c) pathogens; or (d) all of the above? von Cushion, Melanie T

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Echinocandin treatment of pneumocystis pneumonia in rodent models depletes cysts leaving trophic burdens that cannot transmit the infection von Cushion, Melanie T, Linke, Michael J, Ashbaugh, Alan, Sesterhenn, Tom, Collins, Margaret S, Lynch, Keeley, Brubaker, Ronald, Walzer, Peter D

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MAPping tubulin mutations von Cushion, Thomas D, Leca, Ines, Keays, David A

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Overlapping cortical malformations and mutations in TUBB2B and TUBA1A von CUSHION, Thomas D, DOBYNS, William B, UYANIK, Gokhan, RANKIN, Julia, REES, Mark I, PILZ, Daniela T, MULLINS, Jonathan G. L, STOODLEY, Neil, CHUNG, Seo-Kyung, FRY, Andrew E, HEHR, Ute, GUNNY, Roxana, AYLSWORTH, Arthur S, PRABHAKAR, Prab

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The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensor von Hochstoeger, Tobias, Al Said, Tarek, Maestre, Dante, Walter, Florian, Vilceanu, Alexandra, Pedron, Miriam, Cushion, Thomas D, Snider, William, Nimpf, Simon, Nordmann, Gregory Charles, Landler, Lukas, Edelman, Nathaniel, Kruppa, Lennard, Dürnberger, Gerhard, Mechtler, Karl, Schuechner, Stefan, Ogris, Egon, Malkemper, E Pascal, Weber, Stefan, Schleicher, Erik, Keays, David A

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Dicationic and zwitterionic catalysts for the amine-initiated, immortal ring-opening polymerisation of rac-lactide: facile synthesis of amine-terminated, highly heterotactic PLA von Clark, Lawrence, Cushion, Michael G, Dyer, Hellen E, Schwarz, Andrew D, Duchateau, Robbert, Mountford, Philip

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins von Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes von Oegema, Renske, Cushion, Thomas D, Phelps, Ian G, Chung, Seo-Kyung, Dempsey, Jennifer C, Collins, Sarah, Mullins, Jonathan G L, Dudding, Tracy, Gill, Harinder, Green, Andrew J, Dobyns, William B, Ishak, Gisele E, Rees, Mark I, Doherty, Dan

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria von Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T

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Magnesium, calcium and zinc [N 2 N'] heteroscorpionate complexes von Luna Barros, Mariana, Cushion, Michael G, Schwarz, Andrew D, Turner, Zoë R, Mountford, Philip

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Synthesis, Structures and Reactivity of Group 4 Hydrazido Complexes Supported by Calix[4]arene Ligands von Clulow, Andrew J, Selby, Jonathan D, Cushion, Michael G, Schwarz, Andrew D, Mountford, Philip

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Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay von Thomas, Rhys H., Chung, Seo-Kyung, Wood, Sian E., Cushion, Thomas D., Drew, Cheney J. G., Hammond, Carrie L., Vanbellinghen, Jean-Francois, Mullins, Jonathan G. L., Rees, Mark I.

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Syntheses and Structural Diversity of Group 2 and Group 12 Tris(pyrazolyl)methane and Zwitterionic Tris(pyrazolyl)methanide Compounds von Cushion, Michael G, Meyer, Jens, Heath, Alex, Schwarz, Andrew D, Fernández, Ignacio, Breher, Frank, Mountford, Philip

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Pneumocystis-mediated IL-8 release by macrophages requires coexpression of mannose receptors and TLR2 von Tachado, Souvenir D., Zhang, Jianmin, Zhu, Jinping, Patel, Naimish, Cushion, Melanie, Koziel, Henry

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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation von Gardner, Jennifer F, Cushion, Thomas D, Niotakis, Georgios, Olson, Heather E, Grant, P Ellen, Scott, Richard H, Stoodley, Neil, Cohen, Julie S, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M, Mugalaasi, Hood, Mullins, Jonathan G L, Pilz, Daniela T, Fry, Andrew E

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