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

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis

特发性支气管扩张成人患者鼻腔电位差中CFTR活性

Tümmler, Burkhard; Schulz, Angela; Minso, Rebecca; Alfeis, Nadine; Tamm, Stephanie; Rademacher, Jessica; Ringshausen, Felix C

A timeline of symptom onset and disease progression in CLN3 disease

CLN3疾病症状出现和疾病进展的时间线

Whiteman, Ineka T; Cook, Anthony L; Augustine, Erika F; Bindoff, Aidan D; Johnson, Alexandra M; Mason, Heather L; Mink, Jonathan W; Østergaard, John R; Schulz, Angela; Vermilion, Jennifer; Vierhile, Amy; Adams, Heather R

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology

利用德尔菲共识法对CLN3病(巴顿病)的诊断和治疗提出建议

Mink, Jonathan W; Adams, Heather R; Ahrens-Nicklas, Rebecca; Andersen, Brian Nauheimer; Augustine, Erika; Boustany, Rose-Mary; Cooper, Jonathan D; Levin, Alex; Gissen, Paul; Laine, Minna; Mason, Heather L; Mole, Sara E; Nickel, Miriam; Ostergaard, John R; Sikorra, Lori; Treat, Lauren; Whiteman, Ineka T; Williams, Ruth; Schulz, Angela

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome

SyMetrics:一种用于评估人类基因组中同义变异致病性的集成机器学习模型

Bundalian, Linnaeus; Strnadová, Martina Schmidt; Garten, Felix; Horn, Susanne; Stenzel, Udo; Popp, Denny; Lemke, Johannes R; Biskup, Saskia; Schulte, Björn; May, Patrick; Bösebeck, Frank; Garten, Antje; Thor, Doreen; Schulz, Angela; Hentschel, Julia; Kelso, Janet; Schöneberg, Torsten; Le Duc, Diana

A Multitrait Polygenic Risk Score for Open-Angle Glaucoma Stratifies Risk of Pigmentary Glaucoma in Pigment Dispersion Syndrome

一项针对开角型青光眼的多性状多基因风险评分可对色素播散综合征患者的色素性青光眼风险进行分层

Kolovos, Antonia; Qassim, Ayub; Marshall, Henry N; Nguyen, Thi Thi; Schmidt, Joshua; Hassall, Mark M; Tang, Victoria; Maxwell, Giorgina; Landers, John; Mills, Richard; Lake, Stewart; Graham, Stuart L; Schulz, Angela; Galanopoulos, Anna; Casson, Robert J; Goldberg, Ivan; Coote, Michael; Best, Stephen; Lusthaus, Jed; Healey, Paul R; Burnett, Leslie; Töteberg-Harms, Marc; Boese, Erin A; Pouw, Andrew E; Gharahkhani, Puya; Scheetz, Todd; Hewitt, Alex W; MacGregor, Stuart; Siggs, Owen M; Souzeau, Emmanuelle; Fingert, John H; Craig, Jamie E

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

转化脂质组学揭示BMP及其前体LPG可作为CLN5巴顿病的生物标志物。

Rawat, Eshaan S; Manfred, Nick; Alsohybe, Hisham N; Dong, Wentao; Peña, Isabelle V; Idris, Maryam; Posern, Christian; Westermann, Lena M; Murray, Samantha J; Panneman, Daan M; Vecchia, Stefania Della; Doccini, Stefano; Marchese, Maria; Santorelli, Filippo M; van Hasselt, Peter M; Mitchell, Nadia L; Schulz, Angela; Abu-Remaileh, Monther

Glial and immune dysregulation in glaucoma independent of retinal ganglion cell loss: a human post-mortem histopathology study

青光眼中神经胶质细胞和免疫功能紊乱与视网膜神经节细胞丢失无关:一项人类尸检组织病理学研究

Salkar, Akanksha; Palanivel, Viswanthram; Basavarajappa, Devaraj; Mirzaei, Mehdi; Schulz, Angela; Yan, Peng; Gupta, Vivek; Graham, Stuart; You, Yuyi

Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa

接受塞利波酶α治疗的CLN2疾病患者的真实世界临床结果

Schulz, Angela; Schwering, Christoph; Wibbeler, Eva; Westermann, Lena Marie; Hagenah, Luca; Lezius, Susanne; Jha, Ashok; Hunt, Abigail; Slasor, Peter; Reisewitz, Pascal; Nickel, Miriam

Succinate receptor 1 signaling mutually depends on subcellular localization and cellular metabolism

琥珀酸受体1信号传导与亚细胞定位和细胞代谢相互依赖。

Liebing, Aenne-Dorothea; Rabe, Philipp; Krumbholz, Petra; Zieschang, Christian; Bischof, Franziska; Schulz, Angela; Billig, Susan; Birkemeyer, Claudia; Pillaiyar, Thanigaimalai; Garcia-Marcos, Mikel; Kraft, Robert; Stäubert, Claudia

Dysfunction of the adhesion G protein-coupled receptor latrophilin 1 (ADGRL1/LPHN1) increases the risk of obesity

黏附性G蛋白偶联受体latrophilin 1 (ADGRL1/LPHN1)功能障碍会增加肥胖风险。

Dietzsch, André Nguyen; Al-Hasani, Hadi; Altschmied, Joachim; Bottermann, Katharina; Brendler, Jana; Haendeler, Judith; Horn, Susanne; Kaczmarek, Isabell; Körner, Antje; Krause, Kerstin; Landgraf, Kathrin; Le Duc, Diana; Lehmann, Laura; Lehr, Stefan; Pick, Stephanie; Ricken, Albert; Schnorr, Rene; Schulz, Angela; Strnadová, Martina; Velluva, Akhil; Zabri, Heba; Schöneberg, Torsten; Thor, Doreen; Prömel, Simone