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

The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy

parkin V380L 变体是 Machado-Joseph 病的遗传修饰因子,对线粒体自噬有影响

Jonasz J Weber #, Leah Czisch #, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana D Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Jorge Sequeiros, Guy A Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, 

Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 Therapy

病例报告:接受个性化肽疫苗和抗PD-1疗法治疗的脑转移性卵巢癌患者的长期生存

Zelba, Henning; Kyzirakos, Christina; Kayser, Simone; Shao, Borong; Reinhardt, Annekathrin; Pieper, Natalia; Rabsteyn, Armin; Döcker, Dennis; Armeanu-Ebinger, Sorin; Kloor, Matthias; Hadaschik, Dirk; Schulze, Martin; Battke, Florian; Golf, Alexander; Biskup, Saskia

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories

对基于NGS的测序技术在癫痫患者中的前瞻性评估:七个NASGE相关诊断实验室的结果

Witzel, Maximilian G W; Gebhard, Christian; Wenzel, Sören; Kleier, Saskia; Eichhorn, Birgit; Lorenz, Peter; von der Heyden, Laura; Kuhn, Marius; Luedeke, Manuel; Döcker, Miriam; Jüngling, Jerome; Schulte, Björn; Hörtnagel, Konstanze; Glaubitz, Ralf; Knippenberger, Sarah; Teubert, Anna; Abicht, Angela; Neuhann, Teresa M

Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

肿瘤免疫控制需要通过干扰素依赖性细胞周期调节通路诱导肿瘤细胞衰老。

Ellen Brenner # ,Barbara F Schörg # ,Fatima Ahmetlić # ,Thomas Wieder ,Franz Joachim Hilke ,Nadine Simon ,Christopher Schroeder ,German Demidov ,Tanja Riedel ,Birgit Fehrenbacher ,Martin Schaller ,Andrea Forschner ,Thomas Eigentler ,Heike Niessner ,Tobias Sinnberg ,Katharina S Böhm ,Nadine Hömberg ,Heidi Braumüller ,Daniel Dauch ,Stefan Zwirner ,Lars Zender ,Dominik Sonanini ,Albert Geishauser ,Jürgen Bauer ,Martin Eichner ,Katja J Jarick ,Andreas Beilhack ,Saskia Biskup ,Dennis Döcker ,Dirk Schadendorf ,Leticia Quintanilla-Martinez ,Bernd J Pichler ,Manfred Kneilling ,Ralph Mocikat ,Martin Röcken

Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma - results of a prospective biomarker study

转移性黑色素瘤 CTLA-4 和 PD-1 抗体联合治疗中的肿瘤突变负担和循环肿瘤 DNA - 前瞻性生物标志物研究的结果

Andrea Forschner, Florian Battke, Dirk Hadaschik, Martin Schulze, Stephanie Weißgraeber, Chung-Ting Han, Maria Kopp, Maximilian Frick, Bernhard Klumpp, Nicola Tietze, Teresa Amaral, Peter Martus, Tobias Sinnberg, Thomas Eigentler, Ulrike Keim, Claus Garbe, Dennis Döcker, Saskia Biskup

Immune monitoring and TCR sequencing of CD4 T cells in a long term responsive patient with metastasized pancreatic ductal carcinoma treated with individualized, neoepitope-derived multipeptide vaccines: a case report

对接受个体化新表位衍生多肽疫苗治疗的转移性胰腺导管癌患者进行免疫监测和CD4 T细胞TCR测序:病例报告

Katja Sonntag ,Hisayoshi Hashimoto ,Matthias Eyrich ,Moritz Menzel ,Max Schubach ,Dennis Döcker ,Florian Battke ,Carolina Courage ,Helmut Lambertz ,Rupert Handgretinger ,Saskia Biskup ,Karin Schilbach

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

GRIN2B脑病:表型、变异聚集、功能后果和治疗方面的新发现

Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis; Strom, Tim M; Mefford, Heather C; Myers, Candace T; Muir, Alison M; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E; Brilstra, Eva; van Haelst, Mieke M; van der Smagt, Jasper J; Bok, Levinus A; Møller, Rikke S; Jensen, Uffe B; Millichap, John J; Berg, Anne T; Goldberg, Ethan M; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R; Zackai, Elaine H; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J; Lawson, John A; Roscioli, Tony; Jansen, Floor E; Ranza, Emmanuelle; Korff, Christian M; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A; Brady, Lauren I; Wolff, Markus; Dondit, Lutz; Pedro, Helio F; Parisotto, Sarah E; Jones, Kelly L; Patel, Anup D; Franz, David N; Vanzo, Rena; Marco, Elysa; Ranells, Judith D; Di Donato, Nataliya; Dobyns, William B; Laube, Bodo; Traynelis, Stephen F; Lemke, Johannes R

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

第二份关于因 VPS11 基因缺陷导致的新型髓鞘形成减退症的报告揭示了大量溶酶体参与

Konstanze Hörtnagel, Inge Krägeloh-Mann, Antje Bornemann, Miriam Döcker, Saskia Biskup, Heidi Mayrhofer, Florian Battke, Gabriele du Bois, Klaus Harzer

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

良性家族性新生儿癫痫大家族中发现新型KCNQ3突变:新生儿癫痫的罕见病因

Maljevic, Snezana; Vejzovic, Sabina; Bernhard, Matthias K; Bertsche, Astrid; Weise, Sebastian; Döcker, Miriam; Lerche, Holger; Lemke, Johannes R; Merkenschlager, Andreas; Syrbe, Steffen

The phenotypic spectrum of SCN8A encephalopathy

SCN8A脑病的表型谱

Larsen, Jan; Carvill, Gemma L; Gardella, Elena; Kluger, Gerhard; Schmiedel, Gudrun; Barisic, Nina; Depienne, Christel; Brilstra, Eva; Mang, Yuan; Nielsen, Jens Erik Klint; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jähn, Johanna A; Jepsen, Birgit; Gill, Deepak; Döcker, Miriam; Biskup, Saskia; McMahon, Jacinta M; Koeleman, Bobby; Harris, Mandy; Braun, Kees; de Kovel, Carolien G F; Marini, Carla; Specchio, Nicola; Djémié, Tania; Weckhuysen, Sarah; Tommerup, Niels; Troncoso, Monica; Troncoso, Ledia; Bevot, Andrea; Wolff, Markus; Hjalgrim, Helle; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Møller, Rikke S