日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex

维加巴特林相关脑磁共振成像异常及结节性硬化症患儿的临床症状

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; Petrák, Bořivoj; Maminak, Miroslav; Aronica, Eleonora; De Ridder, Jessie; Lagae, Lieven; Jozwiak, Sergiusz; Kotulska, Katarzyna; Braun, Kees; Jansen, Floor

Methodological insights from the EPISTOP trial to designing clinical trials in rare diseases-A secondary analysis of a randomized clinical trial

从EPISTOP试验中获得的方法学启示对罕见病临床试验设计具有重要意义——一项随机临床试验的二次分析

Wied, Stephanie; Hilgers, Ralf-Dieter; Heussen, Nicole; Kotulska, Katarzyna; Dirani, Maya; Kuchenbuch, Mathieu; Jozwiak, Sergiusz; Nabbout, Rima

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex

对95例嵌合型结节性硬化症患者进行全面的遗传和表型分析

Klonowska, Katarzyna; Giannikou, Krinio; Grevelink, Joannes M; Boeszoermenyi, Barbara; Thorner, Aaron R; Herbert, Zachary T; Afrin, Antara; Treichel, Alison M; Hamieh, Lana; Kotulska, Katarzyna; Jozwiak, Sergiusz; Moss, Joel; Darling, Thomas N; Kwiatkowski, David J

Epilepsy in Dravet Syndrome-Current and Future Therapeutic Opportunities

Dravet综合征中的癫痫——当前和未来的治疗机遇

Gao, Chao; Pielas, Mikolaj; Jiao, Fuyong; Mei, Daoqi; Wang, Xiaona; Kotulska, Katarzyna; Jozwiak, Sergiusz

Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management

结节性硬化症室管膜下巨细胞星形细胞瘤——其发病机制和治疗的最新观点

Gao, Chao; Zabielska, Bernadeta; Jiao, Fuyong; Mei, Daoqi; Wang, Xiaona; Kotulska, Katarzyna; Jozwiak, Sergiusz

Editorial: Viral vector-based gene therapy in neurological disease: The future is now

社论:基于病毒载体的神经系统疾病基因治疗:未来已来

Smith, Jared B; Cancedda, Laura; Jozwiak, Sergiusz; Mercer, Andrew C

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex

miRNA 和异构体 miRNA:结节性硬化症患者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; Epistop Consortium Members

Author Correction: Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment

作者更正:结节性硬化症皮质结节的编码和小非编码转录组图谱:对病理生理学和治疗的意义

Mills, James D; Iyer, Anand M; van Scheppingen, Jackelien; Bongaarts, Anika; Anink, Jasper J; Janssen, Bart; Zimmer, Till S; Spliet, Wim G; van Rijen, Peter C; Jansen, Floor E; Feucht, Martha; Hainfellner, Johannes A; Krsek, Pavel; Zamecnik, Josef; Kotulska, Katarzyna; Jozwiak, Sergiusz; Jansen, Anna; Lagae, Lieven; Curatolo, Paolo; Kwiatkowski, David J; Pasterkamp, R Jeroen; Senthilkumar, Ketharini; von Oerthel, Lars; Hoekman, Marco F; Gorter, Jan A; Crino, Peter B; Mühlebner, Angelika; Scicluna, Brendon P; Aronica, Eleonora

Newborn screening and gene therapy in SMA: Challenges related to vaccinations

新生儿筛查和脊髓性肌萎缩症基因治疗:疫苗接种相关的挑战

Kotulska, Katarzyna; Jozwiak, Sergiusz; Jedrzejowska, Maria; Gos, Monika; Ogrodnik, Magdalena; Wysocki, Jacek; Czajka, Hanna; Kuchar, Ernest

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

结节性硬化症的罕见表现和恶性肿瘤:来自结节性硬化症登记处提高疾病认识 (TOSCA) 的发现

Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; de Vries, Petrus J; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J Chris