Not logged in Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation Hoogwijs, Ine; Mandelstam, Simone A.; Mcgillivray, George; Halliday, Benjamin J.; Yiu, Eppie M.; Macdonald-Laurs, Emma; Perry, David; Patel, Rakesh; Gabbett, Michael; Patel, Chirag; Malone, Stephen; Fahey, Michael; Gill, Deepak; Field, Mike; Delatycki, Martin B.; Mohammad, Shekeeb; Berkovic, Samuel F.; Scheffer, Ingrid E.; Lockhart, Paul J.; Jackson, Graeme D.; Jansen, Anna C.; Robertson, Stephen P.; Leventer, Richard J. Share Save
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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia Macdonald-Laurs, Emma; Warren, Aaron E. L.; Francis, Peter; Mandelstam, Simone A.; Lee, Wei Shern; Coleman, Matthew; Stephenson, Sarah E. M.; Barton, Sarah; D'Arcy, Colleen; Lockhart, Paul J.; Leventer, Richard J.; Harvey, A. Simon Share Save
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk Oliver, Karen L.; Trivisano, Marina; Mandelstam, Simone A.; De Dominicis, Angela; Francis, David I.; Green, Timothy E.; Muir, Alison M.; Chowdhary, Apoorva; Hertzberg, Christoph; Goldhahn, Klaus; Metreau, Julia; Prager, Christine; Pinner, Jason; Cardamone, Michael; Myers, Kenneth A.; Leventer, Richard J.; Lesca, Gaetan; Bahlo, Melanie; Hildebrand, Michael S.; Mefford, Heather C.; Kaindl, Angela M.; Specchio, Nicola; Scheffer, Ingrid E. Share Save
Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome Halliday, B. J.; Baynam, G.; Ewans, L.; Greenhalgh, L.; Leventer, R. J.; Pilz, D. T.; Sachdev, R.; Scheffer, I. E.; Markie, D. M.; McGillivray, G.; Robertson, S. P.; Mandelstam, S. Share Save
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Stephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang Share Save
One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia Macdonald-Laurs, Emma; Maixner, Wirginia J.; Bailey, Catherine A.; Barton, Sarah M.; Mandelstam, Simone A.; Yang, Joseph Yuan-Mou; Warren, Aaron E. L.; Kean, Michael J.; Francis, Peter; MacGregor, Duncan; D'Arcy, Colleen; Wrennall, Jacquie A.; Davidson, Andrew; Pope, Kate; Leventer, Richard J.; Freeman, Jeremy L.; Wray, Alison; Jackson, Graeme D.; Harvey, A. Simon Share Save
DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation Morcom, Laura; Edwards, Timothy J.; Rider, Eric; Jones-Davis, Dorothy; Lim, Jonathan W. C.; Chen, Kok-Siong; Dean, Ryan J.; Bunt, Jens; Ye, Yunan; Gobius, Llan; Suarez, Rodrigo; Mandelstam, Simone; Sherr, Elliott H.; Richards, Linda J. Share Save
Neurocognitive Dysfunction and Smaller Brain Volumes in Adolescents and Adults With a Fontan Circulation Verrall, Charlotte E.; Yang, Joseph Y. M.; Chen, Jian; Schembri, Adrian; d'Udekem, Yves; Zannino, Diana; Kasparian, Nadine A.; du Plessis, Karin; Grieve, Stuart M.; Welton, Thomas; Barton, Belinda; Gentles, Thomas L.; Celermajer, David S.; Attard, Chantal; Rice, Kathryn; Ayer, Julian; Mandelstam, Simone; Winlaw, David S.; Mackay, Mark T.; Cordina, Rachael Share Save
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E. Share Save
The severe epilepsy syndromes of infancy: A population-based study Howell, Katherine B.; Freeman, Jeremy L.; Mackay, Mark T.; Fahey, Michael C.; Archer, John; Berkovic, Samuel F.; Chan, Eunice; Dabscheck, Gabriel; Eggers, Stefanie; Hayman, Michael; Holberton, James; Hunt, Rodney W.; Jacobs, Susan E.; Kornberg, Andrew J.; Leventer, Richard J.; Mandelstam, Simone; McMahon, Jacinta M.; Mefford, Heather C.; Panetta, Julie; Riseley, Jessica; Rodriguez-Casero, Victoria; Ryan, Monique M.; Schneider, Amy L.; Smith, Lindsay J.; Stark, Zornitza; Wong, Flora; Yiu, Eppie M.; Scheffer, Ingrid E.; Harvey, A. Simon Share Save
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing Stutterd, Chloe A.; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J.; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B.; Jansen, Anna; Leventer, Richard J. Share Save
Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study Arrigoni, F.; Peruzzo, D.; Mandelstam, S.; Amorosino, G.; Redaelli, D.; Romaniello, R.; Leventer, R.; Borgatti, R.; Seal, M.; Yang, J. Y-M Share Save
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA Lee, Wei Shern; Stephenson, Sarah E. M.; Howell, Katherine B.; Pope, Kate; Gillies, Greta; Wray, Alison; Maixner, Wirginia; Mandelstam, Simone A.; Berkovic, Samuel F.; Scheffer, Ingrid E.; MacGregor, Duncan; Harvey, Anthony Simon; Lockhart, Paul J.; Leventer, Richard J. Share Save
Dorsal language stream anomalies in an inherited speech disorder Liegeois, Frederique J.; Turner, Samantha J.; Mayes, Angela; Bonthrone, Alexandra F.; Boys, Amber; Smith, Libby; Parry-Fielder, Bronwyn; Mandelstam, Simone; Spencer-Smith, Megan; Bahlo, Melanie; Scerri, Tom S.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Connelly, Alan; Morgan, Angela T. Share Save
Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke Medley, Tanya L.; Miteff, Christina; Andrews, Ian; Ware, Tyson; Cheung, Michael; Monagle, Paul; Mandelstam, Simone; Wray, Alison; Pridmore, Clair; Troedson, Christopher; Dale, Russell C.; Fahey, Michael; Sinclair, Adriane; Walsh, Peter; Stojanovski, Belinda; MacKay, Mark T. Share Save
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy Howell, Katherine B.; Eggers, Stefanie; Dalziel, Kim; Riseley, Jessica; Mandelstam, Simone; Myers, Candace T.; McMahon, Jacinta M.; Schneider, Amy; Carvill, Gemma L.; Mefford, Heather C.; Scheffer, Ingrid E.; Harvey, A. Simon Share Save
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy Pederick, Daniel T.; Richards, Kay L.; Piltz, Sandra G.; Kumar, Raman; Mincheva-Tasheva, Stefka; Mandelstam, Simone A.; Dale, Russell C.; Scheffer, Ingrid E.; Gecz, Jozef; Petrou, Steven; Hughes, James N.; Thomas, Paul Q. Share Save
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45 Carvill, Gemma L.; Liu, Aijie; Mandelstam, Simone; Schneider, Amy; Lacroix, Amy; Zemel, Matthew; McMahon, Jacinta M.; Bello-Espinosa, Luis; Mackay, Mark; Wallace, Geoffrey; Waak, Michaela; Zhang, Jing; Yang, Xiaoling; Malone, Stephen; Zhang, Yue-Hua; Mefford, Heather C.; Scheffer, Ingrid E. Share Save
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