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

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

SCA27B的临床、遗传和影像学特征:来自荷兰大型队列研究的启示

van Prooije, Teije H; Pennings, Maartje; Maas, Roderick P P W M; de Vries, Jeroen; Verschuuren-Bemelmans, Corien; Odekerken, Vincent; Darweesh, Sirwan K L; Huisman, Mark; Oosterloo, Mayke; Buijink, Arthur; van de Wardt, Jaron; Vanhoutte, Els; Wong, Tsz Hang; Koens, Lisette; de Boer, Eva; van Gaalen, Judith; Beudel, Martijn; Roos, Dareia S; Hoff, Jorrit I; Cornelissen, Thimo; Schouten, Meyke; Gardeichik, Thatjana; van der Looij, Erica; Klein, Christine; Trinh, Joanne; Kamsteeg, Erik-Jan; van de Warrenburg, Bart

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

显性横纹肌溶解症与复发性 ATP2A2 变异体有关,该变异体可降低肌肉中 SERCA2 的功能。

Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Šikić, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schänzer, Anne; Küsters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadža, Danijela Petković; Jakovčević, Antonia; Žigman, Tamara; Čavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Barić, Ivo; Lochmüller, Hanns

AB040. Subclinical myasthenia gravis after thymectomy: a 20-year retrospective cohort study

AB040. 胸腺切除术后亚临床重症肌无力:一项20年回顾性队列研究

Balasubramanian, Meena; Dingemans, Alexander J M; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H; Burke, Katherine B; Fry, Andrew E; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske; Marcuse, Florit; Hoeijmakers, Janneke; Abdul Hamid, Myrurgia; Romeo, Jamie; Maessen, Jos; Peeters, Stephanie; Damoiseaux, Jan; Martinez, Pilar; Hochstenbag, Monique; De Baets, Marc

Rhabdomyolysis in the Era of Next-Generation Sequencing: Selecting Patients with a High Likelihood of a Genetic Susceptibility Using 'RHABDO' Features

新一代测序时代的横纹肌溶解症:利用“RHABDO”特征筛选具有高遗传易感性的患者

Kruijt, Nick; van de Camp, Sanne A J H; Kramer, Jasper J; van den Bersselaar, Luuk R; Schouten, Meyke; Gardeitchik, Thatjana; Jungbluth, Heinz; Bhai, Salman; van der Kooi, Anneke J; Kamsteeg, Erik-Jan; Voermans, Nicol C

Assessing health technology implementation during academic research and early-stage development: support tools for awareness and guidance: a review

评估学术研究和早期开发阶段的卫生技术实施情况:提高认识和提供指导的支持工具:一项综述

Roosink, Meyke; van Gemert-Pijnen, Lisette; Verdaasdonk, Ruud; Kelders, Saskia M

Human scattered tubular cells represent a heterogeneous population of glycolytic dedifferentiated proximal tubule cells

人类散在的肾小管细胞代表了一群异质性的、糖酵解去分化的近端肾小管细胞。

Eymael, Jennifer; van den Broek, Martijn; Miesen, Laura; Monge, Valerie Villacorta; van den Berge, Bartholomeus T; Mooren, Fieke; Velez, Vicky Luna; Dijkstra, Jelmer; Hermsen, Meyke; Bándi, Péter; Vermeulen, Michiel; de Wildt, Saskia; Willemsen, Brigith; Florquin, Sandrine; Wetzels, Roy; Steenbergen, Eric; Kramann, Rafael; Moeller, Marcus; Schreuder, Michiel F; Wetzels, Jack Fm; van der Vlag, Johan; Jansen, Jitske; Smeets, Bart

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

来自 4800 个外显子组的拷贝数变异导致了约 7% 的运动障碍、肌肉疾病和神经病变的遗传诊断。

Pennings, Maartje; Meijer, Rowdy P P; Gerrits, Monique; Janssen, Jannie; Pfundt, Rolph; de Leeuw, Nicole; Gilissen, Christian; Gardeitchik, Thatjana; Schouten, Meyke; Voermans, Nicol; van de Warrenburg, Bart; Kamsteeg, Erik-Jan

Banff Digital Pathology Working Group: Image Bank, Artificial Intelligence Algorithm, and Challenge Trial Developments

班夫数字病理学工作组:图像库、人工智能算法和挑战性试验进展

Farris, Alton B; Alexander, Mariam P; Balis, Ulysses G J; Barisoni, Laura; Boor, Peter; Bülow, Roman D; Cornell, Lynn D; Demetris, Anthony J; Farkash, Evan; Hermsen, Meyke; Hogan, Julien; Kain, Renate; Kers, Jesper; Kong, Jun; Levenson, Richard M; Loupy, Alexandre; Naesens, Maarten; Sarder, Pinaki; Tomaszewski, John E; van der Laak, Jeroen; van Midden, Dominique; Yagi, Yukako; Solez, Kim

Impact of single-room contact precautions on acquisition and transmission of vancomycin-resistant enterococci on haematological and oncological wards, multicentre cohort-study, Germany, January-December 2016

2016年1月至12月,德国一项多中心队列研究探讨了单间接触隔离措施对血液科和肿瘤科病房中耐万古霉素肠球菌的获得和传播的影响。

Biehl, Lena M; Higgins, Paul G; Stemler, Jannik; Gilles, Meyke; Peter, Silke; Dörfel, Daniela; Vogel, Wichard; Kern, Winfried V; Gölz, Hanna; Bertz, Hartmut; Rohde, Holger; Klupp, Eva-Maria; Schafhausen, Philippe; Salmanton-García, Jon; Stecher, Melanie; Wille, Julia; Liss, Blasius; Xanthopoulou, Kyriaki; Zweigner, Janine; Seifert, Harald; Vehreschild, Maria J G T

Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice

整合素 α7 突变与人类和小鼠成年期发病的心脏功能障碍有关

Enrico Bugiardini, Andreia M Nunes, Ariany Oliveira-Santos, Marisela Dagda, Tatiana M Fontelonga, Pamela Barraza-Flores, Alan M Pittman, Jasper M Morrow, Matthew Parton, Henry Houlden, Perry M Elliott, Petros Syrris, Roderick P Maas, Mohammed M Akhtar, Benno Küsters, Joost Raaphorst, Meyke Schouten,