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Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex 结节性硬化症婴儿的Vigabatrin相关脑磁共振成像异常和临床症状 Stevering, Carmen; Lequin, Maarten; Szczepaniak, Kinga; Sadowski, Krzysztof; Ishrat, Saba; De Luca, Alberto; Leemans, Alexander; Otte, Willem; Kwiatkowski, David J.; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna; Wojdan, Konrad; Sijko, Kamil; Glowacka-Walas, Jagoda; Borkowska, Julita; Domanska-Pakiela, Dorota; Moavero, Romina; Hertzberg, Christoph; Hulshof, Hanna; Scholl, Theresa; Petrak, Borivoj; Maminak, Miroslav; Aronica, Eleonora; De Ridder, Jessie; Lagae, Lieven; Jozwiak, Sergiusz; Kotulska, Katarzyna; Braun, Kees; Jansen, Floor 分享 收藏
Vitamin D prophylaxis in persons with epilepsy? Sourbron, Jo; Auvin, Stephane; Cabral-Lim, Leonor; Devlin, Anita; Dluglos, Dennis; Hosny, Hassan; Marson, Tony; Meador, Kimford J.; Patel, Archana A.; Penell, Page B.; Riney, Kate; Trinka, Eugen; Wiebe, Samuel; Lagae, Lieven 分享 收藏
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex Scheper, Mirte; Sorensen, Frederik N. F.; Ruffolo, Gabriele; Gaeta, Alessandro; Lissner, Lilian J.; Anink, Jasper J.; Korshunova, Irina; Jansen, Floor E.; Riney, Kate; van Hecke, Wim; Muehlebner, Angelika; Khodosevich, Konstantin; Schubert, Dirk; Palma, Eleonora; Mills, James D.; Aronica, Eleonora 分享 收藏
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations 外显子组测序的诊断效用，然后对人脑畸形进行研究再分析 Kooshavar, Daniz; Amor, David J.; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G.; Edwards, Samantha; Fahey, Michael C.; Marum, Justine E.; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S.; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E.; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L.; Lockhart, Paul J.; Leventer, Richard J. 分享 收藏
Loss of maturity and homeostatic functions in Tuberous Sclerosis Complex-derived astrocytes Luinenburg, Mark J.; Scheper, Mirte; Sorensen, Frederik N. F.; Anink, Jasper J.; Van Hecke, Wim; Korshunova, Irina; Jansen, Floor E.; Riney, Kate; van Eijsden, Pieter; Gosselaar, Peter; Mills, James D.; Kalf, Rozemarijn S.; Zimmer, Till S.; Broekaart, Diede W. M.; Khodosevich, Konstantin; Aronica, Eleonora; Muhlebner, Angelika 分享 收藏
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years Huschner, Franz; Glowacka-Walas, Jagoda; Mills, James D.; Klonowska, Katarzyna; Lasseter, Kathryn; Asara, John M.; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Petrak, Borivoj; van Scheppingen, Jackelien; Zamecnik, Josef; Iyer, Anand; Anink, Jasper J.; Muehlebner, Angelika; Mijnsbergen, Caroline; Lagae, Lieven; Curatolo, Paolo; Borkowska, Julita; Sadowski, Krzysztof; Domanska-Pakiela, Dorota; Blazejczyk, Magdalena; Jansen, Floor E.; Janson, Stef; Urbanska, Malgorzata; Tempes, Aleksandra; Janssen, Bart; Sijko, Kamil; Wojdan, Konrad; Jozwiak, Sergiusz; Kotulska, Katarzyna; Lehmann, Karola; Aronica, Eleonora; Jaworski, Jacek; Kwiatkowski, David J. 分享 收藏
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A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial Aitken, Phillip; Stanescu, Ioana; Boddington, Laura; Mahon, Caroline; Fogarasi, Andras; Liao, Yi-Hua; Ivars, Marta; Moreno-Artero, Ester; Trauner, Doris; DeRoos, Steven T.; Jancic, Jasna; Nikolic, Milos; Balazova, Patricia; Price, Harper N.; Hadzsiev, Kinga; Riney, Kate; Stapleton, Stacie; Tollefson, Megha M.; Bauer, Derek; Pinkova, Blanka; Atkinson, Hartley 分享 收藏
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Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study Knupp, Kelly G.; Scheffer, Ingrid E.; Ceulemans, Berten; Sullivan, Joseph; Nickels, Katherine C.; Lagae, Lieven; Guerrini, Renzo; Zuberi, Sameer M.; Nabbout, Rima; Riney, Kate; Agarwal, Anupam; Lock, Michael; Dai, David; Farfel, Gail M.; Galer, Bradley S.; Gammaitoni, Arnold R.; Polega, Shikha; Davis, Ronald; Gil-Nagel, Antonio 分享 收藏
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex miRNAs和isomiRs: 结节性硬化症中智力障碍和自闭症谱系障碍发展的血清生物标志物 Scheper, Mirte; Romagnolo, Alessia; Besharat, Zein Mersini; Iyer, Anand M.; Moavero, Romina; Hertzberg, Christoph; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Scholl, Theresa; Petrak, Borivoj; Maulisova, Alice; Nabbout, Rima; Jansen, Anna C.; Jansen, Floor E.; Lagae, Lieven; Urbanska, Malgorzata; Ferretti, Elisabetta; Tempes, Aleksandra; Blazejczyk, Magdalena; Jaworski, Jacek; Kwiatkowski, David J.; Jozwiak, Sergiusz; Kotulska, Katarzyna; Sadowski, Krzysztof; Borkowska, Julita; Curatolo, Paolo; Mills, James D.; Aronica, Eleonora 分享 收藏
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study Vadlamudi, Lata; Bennett, Carmen Maree; Tom, Melanie; Abdulrasool, Ghusoon; Brion, Kristian; Lundie, Ben; Aung, Hnin; Lau, Chiyan; Rodgers, Jonathan; Riney, Kate; Gordon, Louisa 分享 收藏
International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions 国际抗癫痫联盟不同年龄发作的癫痫综合征的分类和定义: ILAE疾病和定义工作组的立场声明 Riney, Kate; Bogacz, Alicia; Somerville, Ernest; Hirsch, Edouard; Nabbout, Rima; Scheffer, Ingrid E.; Zuberi, Sameer M.; Alsaadi, Taoufik; Jain, Satish; French, Jacqueline; Specchio, Nicola; Trinka, Eugen; Wiebe, Samuel; Auvin, Stephane; Cabral-Lim, Leonor; Naidoo, Ansuya; Perucca, Emilio; Moshe, Solomon L.; Wirrell, Elaine C.; Tinuper, Paolo 分享 收藏
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions 新生儿和婴儿发作的癫痫综合征的ILAE分类和定义: ILAE疾病学和定义工作组的立场声明 Zuberi, Sameer M.; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M.; Specchio, Nicola; Riney, Kate; Pressler, Ronit; Auvin, Stephane; Samia, Pauline; Hirsch, Edouard; Galicchio, Santiago; Triki, Chahnez; Snead, O. Carter; Wiebe, Samuel; Cross, J. Helen; Tinuper, Paolo; Scheffer, Ingrid E.; Perucca, Emilio; Moshe, Solomon L.; Nabbout, Rima 分享 收藏
Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions 癫痫综合征的分类和定义与综合征列表的方法: ILAE疾病学和定义工作组的报告 Wirrell, Elaine C.; Nabbout, Rima; Scheffer, Ingrid E.; Alsaadi, Taoufik; Bogacz, Alicia; French, Jacqueline A.; Hirsch, Edouard; Jain, Satish; Kaneko, Sunao; Riney, Kate; Samia, Pauline; Snead, O. Carter; Somerville, Ernest; Specchio, Nicola; Trinka, Eugen; Zuberi, Sameer M.; Balestrini, Simona; Wiebe, Samuel; Cross, J. Helen; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo 分享 收藏
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions ILAE对特发性全身性癫痫综合征的定义: ILAE疾病学和定义工作组的立场声明 Hirsch, Edouard; French, Jacqueline; Scheffer, Ingrid E.; Bogacz, Alicia; Alsaadi, Taoufik; Sperling, Michael R.; Abdulla, Fatema; Zuberi, Sameer M.; Trinka, Eugen; Specchio, Nicola; Somerville, Ernest; Samia, Pauline; Riney, Kate; Nabbout, Rima; Jain, Satish; Wilmshurst, Jo M.; Auvin, Stephane; Wiebe, Samuel; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo; Wirrell, Elaine C. 分享 收藏
International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions 国际抗癫痫联盟儿童发作的癫痫综合征的分类和定义: ILAE关于疾病和定义的工作组的立场文件 Specchio, Nicola; Wirrell, Elaine C.; Scheffer, Ingrid E.; Nabbout, Rima; Riney, Kate; Samia, Pauline; Guerreiro, Marilisa; Gwer, Sam; Zuberi, Sameer M.; Wilmshurst, Jo M.; Yozawitz, Elissa; Pressler, Ronit; Hirsch, Edouard; Wiebe, Sam; Cross, Helen J.; Perucca, Emilio; Moshe, Solomon L.; Tinuper, Paolo; Auvin, Stephane 分享 收藏
Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex Lavanga, Mario; De Ridder, Jessie; Kotulska, Katarzyna; Moavero, Romina; Curatolo, Paolo; Weschke, Bernhard; Riney, Kate; Feucht, Martha; Krsek, Pavel; Nabbout, Rima; Jansen, Anna C.; Wojdan, Konrad; Domanska-Pakiela, Dorota; Kaczorowska-Frontczak, Magdalena; Hertzberg, Christoph; Ferrier, Cyrille H.; Samueli, Sharon; Jahodova, Alena; Aronica, Eleonora; Kwiatkowski, David J.; Jansen, Floor E.; Jozwiak, Sergiusz; Lagae, Lieven; Van Huffel, Sabine; Caicedo, Alexander 分享 收藏
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