未登录 Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing Jedlickova, Ivana; Cadieux-Dion, Maxime; Pristoupilova, Anna; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Baresova, Veronika; Hulkova, Helena; Sikora, Jakub; Noskova, Lenka; Musalkova, Dita; Vyletal, Petr; Sovova, Jana; Cossette, Patrick; Andermann, Eva; Andermann, Frederick; Kmoch, Stanislav 分享 收藏
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features CLN6突变引起的Kufs病: 临床，病理和分子遗传学特征 Berkovic, Samuel F.; Oliver, Karen L.; Canafoglia, Laura; Krieger, Penina; Damiano, John A.; Hildebrand, Michael S.; Morbin, Michela; Vears, Danya F.; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M.; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E.; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M.; Franceschetti, Silvana; Carpenter, Stirling 分享 收藏
Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties Oliver, Karen L.; Franceschetti, Silvana; Milligan, Carol J.; Muona, Mikko; Mandelstam, Simone A.; Canafoglia, Laura; Boguszewska-Chachulska, Anna M.; Korczyn, Amos D.; Bisulli, Francesca; Di Bonaventura, Carlo; Ragona, Francesca; Michelucci, Roberto; Ben-Zeev, Bruria; Straussberg, Rachel; Panzica, Ferruccio; Massano, Joao; Friedman, Daniel; Crespel, Arielle; Engelsen, Bernt A.; Andermann, Frederick; Andermann, Eva; Spodar, Krystyna; Lasek-Bal, Anetta; Riguzzi, Patrizia; Pasini, Elena; Tinuper, Paolo; Licchetta, Laura; Gardella, Elena; Lindenau, Matthias; Wulf, Annette; Moller, Rikke S.; Benninger, Felix; Afawi, Zaid; Rubboli, Guido; Reid, Christopher A.; Maljevic, Snezana; Lerche, Holger; Lehesjoki, Anna-Elina; Petrou, Steven; Berkovic, Samuel F. 分享 收藏
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders Rosewich, Hendrik; Sweney, Matthew T.; DeBrosse, Suzanne; Ess, Kevin; Ozelius, Laurie; Andermann, Eva; Andermann, Frederick; Andrasco, Gene; Belgrade, Alice; Brashear, Allison; Ciccodicola, Sharon; Egan, Lynn; George, Alfred L.; Lewelt, Aga; Magelby, Joshua; Merida, Mario; Newcomb, Tara; Platt, Vicky; Poncelin, Dominic; Reyna, Sandra; Sasaki, Masayuki; de Menezes, Marcio Sotero; Sweadner, Kathleen; Viollet, Louis; Zupanc, Mary; Silver, Kenneth; Swoboda, Kathryn 分享 收藏
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies Kalviainen, Reetta; Genton, Pierre; Andermann, Eva; Andermann, Frederick; Magaudda, Adriana; Frucht, Steven J.; Schlit, Anne-Francoise; Gerard, Danielle; de la Loge, Christine; von Rosenstiel, Philipp 分享 收藏
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Familial Focal Epilepsy with Focal Cortical Dysplasia Due to DEPDC5 Mutations Baulac, Stephanie; Ishida, Saeko; Marsan, Elise; Miquel, Catherine; Biraben, Arnaud; Dang Khoa Nguyen; Nordli, Doug; Cossette, Patrick; Sylvie Nguyen; Lambrecq, Virginie; Vlaicu, Mihaela; Daniau, Mailys; Bielle, Franck; Andermann, Eva; Andermann, Frederick; Leguern, Eric; Chassoux, Francine; Picard, Fabienne 分享 收藏
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Mutations in DEPDC5 cause familial focal epilepsy with variable foci Dibbens, Leanne M.; de Vries, Boukje; Donatello, Simona; Heron, Sarah E.; Hodgson, Bree L.; Chintawar, Satyan; Crompton, Douglas E.; Hughes, James N.; Bellows, Susannah T.; Klein, Karl Martin; Callenbach, Petra M. C.; Corbett, Mark A.; Gardner, Alison E.; Kivity, Sara; Iona, Xenia; Regan, Brigid M.; Weller, Claudia M.; Crimmins, Denis; O'Brien, Terence J.; Guerrero-Lopez, Rosa; Mulley, John C.; Dubeau, Francois; Licchetta, Laura; Bisulli, Francesca; Cossette, Patrick; Thomas, Paul Q.; Gecz, Jozef; Serratosa, Jose; Brouwer, Oebele F.; Andermann, Frederick; Andermann, Eva; van den Maagdenberg, Arn M. J. M.; Pandolfo, Massimo; Berkovic, Samuel F.; Scheffer, Ingrid E. 分享 收藏
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis 组织蛋白酶F突变导致b型Kufs病，一种成人发病的神经元类神经样脂褐质病 Smith, Katherine R.; Dahl, Hans-Henrik M.; Canafoglia, Laura; Andermann, Eva; Damiano, John; Morbin, Michela; Bruni, Amalia C.; Giaccone, Giorgio; Cossette, Patrick; Saftig, Paul; Groetzinger, Joachim; Schwake, Michael; Andermann, Frederick; Staropoli, John F.; Sims, Katherine B.; Mole, Sara E.; Franceschetti, Silvana; Alexander, Noreen A.; Cooper, Jonathan D.; Chapman, Harold A.; Carpenter, Stirling; Berkovic, Samuel F.; Bahlo, Melanie 分享 收藏
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis Pisano, Tiziana; Barkovich, A. James; Leventer, Richard J.; Squier, Waney; Scheffer, Ingrid E.; Parrini, Elena; Blaser, Susan; Marini, Carla; Robertson, Stephen; Tortorella, Gaetano; Rosenow, Felix; Thomas, Pierre; McGillivray, George; Andermann, Eva; Andermann, Frederick; Berkovic, Samuel F.; Dobyns, William B.; Guerrini, Renzo 分享 收藏
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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 Arsov, Todor; Smith, Katherine R.; Damiano, John; Franceschetti, Silvana; Canafoglia, Laura; Bromhead, Catherine J.; Andermann, Eva; Vears, Danya F.; Cossette, Patrick; Rajagopalan, Sulekha; McDougall, Alan; Sofia, Vito; Farrell, Michael; Aguglia, Umberto; Zini, Andrea; Meletti, Stefano; Morbin, Michela; Mullen, Saul; Andermann, Frederick; Mole, Sara E.; Bahlo, Melanie; Berkovic, Samuel F. 分享 收藏
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Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients Leventer, Richard J.; Jansen, Anna; Pilz, Daniela T.; Stoodley, Neil; Marini, Carla; Dubeau, Francois; Malone, Jodie; Mitchell, L. Anne; Mandelstam, Simone; Scheffer, Ingrid E.; Berkovic, Samuel F.; Andermann, Frederick; Andermann, Eva; Guerrini, Renzo; Dobyns, William B. 分享 收藏
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