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

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Short-chain fatty acids induced lung tumor cell death and increased peripheral blood CD4+ T cells in NSCLC and control patients ex vivo

短链脂肪酸在体外可诱导非小细胞肺癌(NSCLC)患者和健康对照患者的肺肿瘤细胞死亡,并增加外周血CD4+ T细胞数量。

Carolin D Thome ,Patrick Tausche # ,Katja Hohenberger # ,Zuqin Yang ,Susanne Krammer ,Denis I Trufa ,Horia Sirbu ,Joachim Schmidt ,Susetta Finotto

Short-chain fatty acids induced lung tumor cell death and increased peripheral blood CD4+ T cells in NSCLC and control patients ex vivo

短链脂肪酸在体外可诱导非小细胞肺癌(NSCLC)患者和健康对照患者的肺肿瘤细胞死亡,并增加外周血CD4+ T细胞数量。

Carolin D Thome,Patrick Tausche #,Katja Hohenberger #,Zuqin Yang,Susanne Krammer,Denis I Trufa ,Horia Sirbu ,Joachim Schmidt,Susetta Finotto

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

杂合POLG变异Ser1181Asn与常染色体显性遗传性轴突神经病、近端肌肉疲劳、眼睑下垂和红纤维病变共分离

Dohrn, Maike F; Heller, Corina; Zengeler, Diana; Obermaier, Carolin D; Biskup, Saskia; Weis, Joachim; Nikolin, Stefan; Claeys, Kristl G; Schöne, Ulrike; Beijer, Danique; Winter, Natalie; Achenbach, Pascal; Gess, Burkhard; Schulz, Jörg B; Mulahasanovic, Lejla

COVID-19 in Patients Receiving CD20-depleting Immunochemotherapy for B-cell Lymphoma

接受 CD20 清除免疫化疗治疗 B 细胞淋巴瘤的患者感染 COVID-19

Gaitzsch, Erik; Passerini, Verena; Khatamzas, Elham; Strobl, Carolin D; Muenchhoff, Maximilian; Scherer, Clemens; Osterman, Andreas; Heide, Michael; Reischer, Anna; Subklewe, Marion; Leutbecher, Alexandra; Tast, Benjamin; Ruhle, Adrian; Weiglein, Tobias; Stecher, Stephanie-Susanne; Stemmler, Hans J; Dreyling, Martin; Girl, Philipp; Georgi, Enrico; Wölfel, Roman; Mateyka, Laura; D'Ippolito, Elvira; Schober, Kilian; Busch, Dirk H; Kager, Juliane; Spinner, Christoph D; Treiber, Matthias; Rasch, Sebastian; Lahmer, Tobias; Iakoubov, Roman; Schneider, Jochen; Protzer, Ulrike; Winter, Christof; Ruland, Jürgen; Quante, Michael; Keppler, Oliver T; von Bergwelt-Baildon, Michael; Hellmuth, Johannes; Weigert, Oliver

Human Double-Negative Regulatory T-Cells Induce a Metabolic and Functional Switch in Effector T-Cells by Suppressing mTOR Activity

人类双阴性调节性 T 细胞通过抑制 mTOR 活性来诱导效应 T 细胞的代谢和功能转换

Tabea Haug, Michael Aigner, Moritz M Peuser, Carolin D Strobl, Kai Hildner, Dimitrios Mougiakakos, Heiko Bruns, Andreas Mackensen, Simon Völkl

Suppressive effects of tumor cell-derived 5'-deoxy-5'-methylthioadenosine on human T cells

肿瘤细胞衍生的5'-脱氧-5'-甲硫腺苷对人类T细胞的抑制作用

Frederik C Henrich, Katrin Singer, Kerstin Poller, Luise Bernhardt, Carolin D Strobl, Katharina Limm, Axel P Ritter, Eva Gottfried, Simon Völkl, Benedikt Jacobs, Katrin Peter, Dimitrios Mougiakakos, Katja Dettmer, Peter J Oefner, Anja-Katrin Bosserhoff, Marina P Kreutz, Michael Aigner, Andreas Macke