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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Pridopidine in early-stage manifest Huntington's disease: a phase 3 trial

普利多吡啶治疗早期显性亨廷顿病:一项3期临床试验

Reilmann, Ralf; Feigin, Andrew; Rosser, Anne E; Kostyk, Sandra K; Saft, Carsten; Cohen, Yael; Schuring, Henk; Hand, Randal; Tan, Andrew M; Chen, Kelly; Feng, Wei; Navon-Perry, Leehee; Cruz-Herranz, Andres; Syltevik, Christine; Boot, Diderik; Squitieri, Ferdinando; Kayson, Elise; Mehra, Munish; Goldberg, Y Paul; Geva, Michal; Hayden, Michael R

Capturing structural intermediates in an animal-like cryptochrome photoreceptor by time-resolved crystallography

利用时间分辨晶体学捕获动物样隐花色素光感受器中的结构中间体

Maestre-Reyna, Manuel; Hosokawa, Yuhei; Wang, Po-Hsun; Saft, Martin; Caramello, Nicolas; Engilberge, Sylvain; Franz-Badur, Sophie; Gusti Ngurah Putu, Eka Putra; Nakamura, Mai; Wu, Wen-Jin; Wu, Hsiang-Yi; Lee, Cheng-Chung; Huang, Wei-Cheng; Huang, Kai-Fa; Chang, Yao-Kai; Yang, Cheng-Han; Fong, Meng-Iao; Lin, Wei-Ting; Yang, Kai-Chun; Ban, Yuki; Imura, Tomoki; Kazuoka, Atsuo; Tanida, Eisho; Owada, Shigeki; Joti, Yasumasa; Tanaka, Rie; Tanaka, Tomoyuki; Kang, Jungmin; Luo, Fangjia; Tono, Kensuke; Kiontke, Stephan; Korf, Lukas; Umena, Yasufumi; Tosha, Takehiko; Bessho, Yoshitaka; Nango, Eriko; Iwata, So; Royant, Antoine; Tsai, Ming-Daw; Yamamoto, Junpei; Essen, Lars-Oliver

Artificial Intelligence (AI)-Driven Screening of Equivocal Prostate Immunohistochemistry (IHC) Cases: Development and Validation of a Screening and Cancer Detection Framework

人工智能(AI)驱动的疑似前列腺免疫组化(IHC)病例筛查:筛查和癌症检测框架的开发与验证

Nateghi, Ramin; Zhou, Ruoji; Saft, Madeline; Schnauss, Marina; Neill, Clayton; Alam, Ridwan; Handa, Nicole; Huang, Mitchell; Li, Eric V; Goldstein, Jeffery A; Patel, Hiten D; Schaeffer, Edward M; Nadim, Menatalla; Pourakpour, Fattaneh; Isaila, Bogdan; Felicelli, Christopher; Mehta, Vikas; Nezami, Behtash G; Ross, Ashley E; Yang, Ximing J; Cooper, Lee A D

The Affordable Care Act's Call for Nondiscrimination: Addressing the Role of Pulse Oximetry in Racial Disparities

《平价医疗法案》呼吁消除歧视:探讨脉搏血氧饱和度监测在种族差异中的作用

Saft, Howard L; Bhakta, Nirav R; Wong, An-Kwok Ian; Crowder, Sharron J; Sweet, Stuart C; Gurubhagavatula, Indira

Examination of Anti-Inflammatory Effects After Propionate Supplementation in the R6/2 Mouse Model of Huntington's Disease.

在亨廷顿病 R6/2 小鼠模型中检验丙酸补充剂的抗炎作用

König Jennifer, Blusch Alina, Fatoba Oluwaseun, Gold Ralf, Saft Carsten, Ellrichmann-Wilms Gisa

Resistance to imatinib in a ETV6::PDGFRB rearranged myeloid/lymphoid neoplasm with high-risk mutations: a case report

ETV6::PDGFRB重排伴高危突变的髓系/淋巴系肿瘤对伊马替尼耐药:病例报告

Cavelier, Lucia; Saft, Leonie; Sander, Birgitta; Deneberg, Stefan

Influence of Cytogenetics on the Outcome of Patients With High-Risk Myelodysplastic Syndrome Including Deletion 5q Treated With Azacitidine With or Without Lenalidomide

细胞遗传学对接受阿扎胞苷联合或不联合来那度胺治疗的高危骨髓增生异常综合征(包括5q缺失)患者预后的影响

Rasmussen, Bengt; Nilsson, Lars; Tobiasson, Magnus; Jädersten, Martin; Garelius, Hege; Dybedal, Ingunn; Grønbaek, Kirsten; Ejerblad, Elisabeth; Lorenz, Fryderyk; Flogegård, Max; Marcher, Claus Werenberg; Cavalier, Lucia; Ebeling, Freja; Olsnes, Astrid Marta; Nørgaard, Jan Maxwell; Saft, Leonie; Möllgård, Lars; Hellström-Lindberg, Eva; Schlegelberger, Brigitte; Göhring, Gudrun

Development of Machine-Assisted, Human-Centred Bone Marrow Cell Classification: Feasibility Analysis in Patients With Myelodysplastic Syndromes

机器辅助、以人为中心的骨髓细胞分类技术的开发:在骨髓增生异常综合征患者中的可行性分析

Ogata, Kiyoyuki; Mochimaru, Yuto; Saft, Leonie; Sijm, Gerrit; Badaoui, Bouchra; Alhan, Canan; Almire, Carole; Kato, Yosuke; Sakamoto, Daisuke; Chiba, Naoko; Murata, Naho; Kasai, Nana; Sei, Kazuma; Kawahara, Naoya; Ogata, Mika; Chapuis, Nicolas; Wagner-Ballon, Orianne; van de Loosdrecht, Arjan; Yamamoto, Yumi

Tissue Contamination Challenges the Credibility of Machine Learning Models in Real World Digital Pathology

组织污染挑战机器学习模型在真实世界数字病理学中的可信度

Irmakci, Ismail; Nateghi, Ramin; Zhou, Rujoi; Vescovo, Mariavittoria; Saft, Madeline; Ross, Ashley E; Yang, Ximing J; Cooper, Lee A D; Goldstein, Jeffery A