Hippocampal and diencephalic pathology in developmental amnesia

Autor: Dzieciol, Anna M., Bachevalier, Jocelyne, Saleem, Kadharbatcha S., Gadian, David G., Saunders, Richard, Chong, W.K. Kling, Banks, Tina, Mishkin, Mortimer, Vargha-Khadem, Faraneh

Publikováno v: In Cortex January 2017 86:33-44

Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation

Autor: Sa, Mario, Hacohen, Yael, Alderson, Lucy, Chong, W.K. Kling, Anderson, Glenn, Jacques, Thomas S., Neubauer, David, Szczepanik, Elzbieta, Lim, Ming, Kaliakatsos, Marios

Publikováno v: In European Journal of Paediatric Neurology September 2018 22(5):882-888

Clinical and molecular characterisation of KCNT1-related severe early onset epilepsy

Autor: McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E.V., Papandreou, A., Ngoh, A., Ackermann, S., Ambegaonkar, G., Appleton, R., Desurkar, A., Eltze, C., Kneen, R., Kumar, A.V., Lascelles, K., Montgomery, T., Ramesh, V., Samanta, R., Scott, R.H., Tan, J., Whitehouse, W., Poduri, A., Scheffer, I.E., Chong, W.K. \\'Kling\\', Cross, H.K., Topf, Maya, Petrou, S., Kurian, M.A.

Objective: To characterise the phenotypic spectrum, molecular genetic findings and\ud functional consequences of pathogenic variants in early onset KCNT1-epilepsy.\ud Methods: We identified a cohort of 31 patients with epilepsy of infancy with\ud mig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6f179b0f95f7329a5c2c467adad44864
https://eprints.bbk.ac.uk/id/eprint/20184/6/20184a.pdf

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Autor: Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Jr., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ‘‘Kling’’, Mills, Philippa B.

Publikováno v: In The American Journal of Human Genetics 4 August 2016 99(2):521-521

List of Contributors

Autor: Adam, Andreas, Adam, E. Jane, Adams, Judith E., Agosto, Omar, Alobeidi, Farah, Alonzi, Roberto, Andi, Allan C., Argyropoulou, Maria I., Arthurs, Owen, Ascher, Susan M., Avril, Norbert, Aziz, Zelena A., Balériaux, Danielle, Barentsz, Jelle O., Barkhof, Frederik, Barter, Sue J., Beale, Timothy, Bearcroft, Philip W.P., Beigelman-Aubry, Catherine, Belli, Anna-Maria, Berman, Lol, Bhalla, Sanjeev, Bhattacharya, Joti Jonathan, Bogaert, Jan, Bomers, Joyce G.R., Bowden, David J., Breen, David J., Brown, Jackie, Campbell, Robert S.D., Caroline, Dina F., Chateil, Jean-François, Chong, W.K. ‘Kling’, Chun, Joo-Young, Cohan, Richard H., Copley, Susan J., Cosgrove, David O., Cowan, Nigel C., Daghir, Ahmed, Daskalogiannaki, Maria, Dass, Chandra, Davangnanam, Indran, Davies, A. Mark, de Roos, Albert, De Schepper, Arthur M., Sr., Desai, Sujal R., Dixon, Adrian K., Donoghue, Veronica, Dunn, Andrew J., Easty, Marina, Eckersley, Robert J., El-Diasty, Tarek, Abou El-Ghar, Mohamed, Engelke, Christoph, Evans, Andrew J., Fattori, Rossella, Forbes, Kirsten, Franquet, Tomás, Freeman, Alan H., Freeman, Susan, Frühwald-Pallamar, Julia, Gallagher, Ferdia, Gallucci, Massimo, Ganai, Bhaskar, Garcia-Peña, Pilar, Geleijns, Jacob, Gibson, Robert N., Gillard, Jonathan H., Gleeson, Fergus, Godfrey, Edmund M., Goh, Vicky, Gomez Anson, Beatriz, Gourtsoyiannis, Nicholas, Grainger, Andrew J., Granata, Claudio, Graves, Martin J., Grenier, Philippe A., Gunny, Roxana S., Hammond, Christopher J., Hansell, David M., Hartmann, Ieneke J.C., Harvey, Christopher J., Hopper, Melanie A., Hoskin, Peter, Hricak, Hedvig, Hughes, Philip M., Humphries, Paul, Hutton, Brian F., Jackson, James E., Jäger, H. Rolf, James, Jonathan J., James, Steven L.J., Javidan-Nejad, Cylen, Johnson, Karl, Jones, Brynmor P., Jones, Hefin, Kabra, Ruchi, Katsanos, Konstantinos, Bittencourt, Leonardo Kayat, Keeling, Aoife, Kilburn-Toppin, Fleur, Kroft, Lucia J.M., Lazoura, Olga, Lee, Michael J., Lim, Adrian, Link, Thomas M., Lomas, David J., Lovato, Luigi, McLaughlin, Patrick, McNally, Eugene, MacVicar, David, Maher, Michael, Mannelli, Lorenzo, Marten-Engelke, Katharina, Matys, Tomasz, Meaney, James F.M., Meduri, Agostino, Mehta, Amrish, Micallef, Caroline, Miles, Kenneth A., Miller, Lisa A., Mirvis, Stuart E., Miszkiel, Katherine, Morgan, Robert A., Morrison, Iain D., Morse, Richard J., Moss, Jonathan G., Nair, Arjun, Natale, Luigi, Nicholson, Anthony A., O'Connor, Owen J., O'Connor, Philip, O'Donnell, Paul, Offiah, Amaka C., Olsen, Øystein E., Ording, Lil-Sofie, Owens, Catherine M., Padley, Simon P.G., Parizel, Paul M., Parkar, Nadeem, Patel, Uday, Paterson, Anne, Plumb, Andrew, Prassopoulos, Panos, Prokop, Mathias, Quail, Michael A., Raby, Nigel, Rajashanker, Balashanmugam, Rankine, James J., Ratnam, Lakshmi, Reekers, Jim A., Reimer, Peter, Reynolds, John H., Reznek, Rodney H., Riccabona, Michael, Ricketts, James, Rosendahl, Karen, Rossi, Andrea, Rottenberg, Giles, Rout, John, Rovira, Alex, Rutherford, Elizabeth, Sabarwal, Tarun, Sahdev, Anju, Saifuddin, Asif, Sala, Evis, Schaefer-Prokop, Cornelia M., Schima, Wolfgang, Scoffings, Daniel J., Segerman, Djilda, Serrao, Eva, Shaida, Nadeem, Shaw, Ashley S., Stevens, John M., Sheikh-Bahaei, Nasim, Shepherd, Beth, Siebelink, Hans-Marc J., Sundgren, Pia C., Sutherland, Tom, Sverzellati, Nicola, Tack, Denis, Taylor, Andrew M., Taylor, Stuart A., Thakor, Avnesh S., Thomsen, Henrik S., Thurnher, Majda M., Thust, Stefanie C., van den Hauwe, Luc, van Goethem, Johan W., Van Thielen, Thomas, Verschakelen, Johny A., Villeirs, Geert M., Viney, Zaid, Vinnicombe, Sarah J., Watkinson, Anthony, Watson, Tom A., Westenberg, Jos J.M., Whitehouse, Richard W., Wilkinson, Iain D., Wilson, A. Robin M., Yadavali, Reddi Prasad, Young, Carolyn, Zampakis, Peter

Publikováno v: In Grainger & Allison's Diagnostic Radiology Edition: Sixth Edition. 2014:xi-xix