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

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia

ATG9A 比值在 AP-4 相关遗传性痉挛性截瘫诊断中的应用价值

Agianda, Habibah A P; Kim, Hyo-Min; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Gonzalez Saez-Diez, Enrique; Boerkoel, Cornelius F; Saffari, Afshin; Quiroz, Vicente; Schierbaum, Luca; Zaman, Zainab; Bernardi, Katerina; Ebrahimi-Fakhari, Darius

MBOAT7 encephalopathy: Characterizing the neurology and epileptology

MBOAT7脑病:神经病学和癫痫病学特征

De la Rosa, Sebastian Ortiz; Rizzo, Valentina; Jauss, Robin-Tobias; Bartolomaeus, Tobias; Escolar, Maria; Bernard, Geneviève; Gavrilova, Ralitza; Ahrens-Nicklas, Rebecca; Lemire, Gabrielle; Boycott, Kym M; Mercimek-Andrews, Saadet; Prontera, Paolo; Costa, Cinzia; Rakic, Bojana; Boerkoel, Cornelius F; Huynh, Stephanie; Huh, Linda; Sherr, Elliott; Argilli, Emanuela; Ortigoza-Escobar, Juan Darío; Casas-Alba, Didac; Nunes, Tania; Koolen, David A; Platzer, Konrad; Khinchi, Marianne S; Gardella, Elena; Fenger, Christina D; Møller, Rikke S; Bayat, Allan

Using long-read sequencing to detect and subtype a case with Temple syndrome

利用长读长测序技术检测和分型一例坦普尔综合征病例。

Dada, Sarah; Akbari, Vahid; Hejla, Duha; Shen, Yaoqing; Dixon, Katherine; Choufani, Sanaa; Weksberg, Rosanna A; Boerkoel, Cornelius F; Stewart, Laura; Schlade-Bartusiak, Kamilla; Strong, Emma; Fox, Danya; Gamu, Daniel; Gibson, William T; Jones, Steven J M

Hyaluronic acid: Function and location in the urothelial barrier for bladder pain syndrome/interstitial cystitis, an in vitro study.

透明质酸:膀胱疼痛综合征/间质性膀胱炎中尿路上皮屏障的功能和位置,一项体外研究

van Ginkel Charlotte J, Baars Cléo D M, Tiemessen Dorien M, Jansen Cornelius F J, Martens Frank M J, Schalken Jack A, Janssen Dick A W

Cerebral microstructural alterations in Post-COVID-condition are related to cognitive impairment, olfactory dysfunction and fatigue

新冠后遗症患者的大脑微观结构改变与认知障碍、嗅觉功能障碍和疲劳有关。

Hosp, Jonas A; Reisert, Marco; Dressing, Andrea; Götz, Veronika; Kellner, Elias; Mast, Hansjörg; Arndt, Susan; Waller, Cornelius F; Wagner, Dirk; Rieg, Siegbert; Urbach, Horst; Weiller, Cornelius; Schröter, Nils; Rau, Alexander

The SNP rs460089 in the gene promoter of the drug transporter OCTN1 has prognostic value for treatment-free remission in chronic myeloid leukemia patients treated with imatinib

药物转运蛋白OCTN1基因启动子中的SNP rs460089对接受伊马替尼治疗的慢性粒细胞白血病患者的无治疗缓解具有预后价值

Machova Polakova, Katerina; Albeer, Ali; Polivkova, Vaclava; Krutska, Monika; Vlcanova, Katerina; Curik, Nikola; Fabarius, Alice; Klamova, Hana; Spiess, Birgit; Waller, Cornelius F; Brümmendorf, Tim H; Dengler, Jolanta; Kunzmann, Volker; Burchert, Andreas; Belohlavkova, Petra; Mustjoki, Satu; Faber, Edgar; Mayer, Jiri; Zackova, Daniela; Panayiotidis, Panayiotis; Richter, Johan; Hjorth-Hansen, Henrik; Kamińska, Magdalena; Płonka, Magdalena; Szczepanek, Elżbieta; Szarejko, Monika; Bober, Grażyna; Hus, Iwona; Grzybowska-Izydorczyk, Olga; Wasilewska, Ewa; Paczkowska, Edyta; Niesiobędzka-Krężel, Joanna; Giannopoulos, Krzysztof; Mahon, Francois X; Sacha, Tomasz; Saußele, Susanne; Pfirrmann, Markus

Addendum to the German Consensus Recommendations on Ponatinib in the Treatment of Chronic Myeloid Leukemia

德国关于帕纳替尼治疗慢性粒细胞白血病的共识建议的补充

Saussele, Susanne; La Rosée, Paul; Kiani, Alexander; Haverkamp, Wilhelm; Jentsch-Ullrich, Kathleen; Stegelmann, Frank; Rieger, Christina; Waller, Cornelius F; Franke, Georg-Nikolaus; Junghanss, Christian; Kirchmair, Rudolf; Theurl, Markus; le Coutre, Philipp

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

双等位基因ATG4D变异与一种以言语和运动障碍为特征的神经发育障碍相关。

Marie Morimoto ,Vikas Bhambhani ,Nour Gazzaz ,Mariska Davids ,Paalini Sathiyaseelan ,Ellen F Macnamara ,Jennifer Lange, Anna Lehman ,Patricia M Zerfas ,Jennifer L Murphy ,Maria T Acosta ,Camille Wang ,Emily Alderman ,Audrey Thurm ,David R Adams ,Wendy J Introne ,Sharon M Gorski ,Cornelius F Boerkoel ,William A Gahl ,Cynthia J Tifft ,May Christine V Malicdan

SARS-CoV-2-specific T-cell epitope repertoire in convalescent and mRNA-vaccinated individuals

恢复期和 mRNA 疫苗接种者的 SARS-CoV-2 特异性 T 细胞表位库

Julia Lang-Meli #, Hendrik Luxenburger #, Katharina Wild #, Vivien Karl #, Valerie Oberhardt #, Elahe Salimi Alizei, Anne Graeser, Matthias Reinscheid, Natascha Roehlen, David B Reeg, Sebastian Giese, Kevin Ciminski, Veronika Götz, Dietrich August, Siegbert Rieg, Cornelius F Waller, Tobias Wengenmay

Clinical predictors of survival in patients with relapsed/refractory small-cell lung cancer treated with checkpoint inhibitors: a German multicentric real-world analysis

接受免疫检查点抑制剂治疗的复发/难治性小细胞肺癌患者生存期的临床预测因素:一项德国多中心真实世界分析

Stratmann, Jan A; Timalsina, Radha; Atmaca, Akin; Rosery, Vivian; Frost, Nikolaj; Alt, Jürgen; Waller, Cornelius F; Reinmuth, Niels; Rohde, Gernot; Saalfeld, Felix C; von Rose, Aaron Becker; Acker, Fabian; Aspacher, Lukas; Möller, Miriam; Sebastian, Martin