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

A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants

型血管性血友病的新病因:双等位基因 MADD 变异导致 Weibel-Palade 小体胞吐受损

Hordijk, Sophie; Groten, Stijn A; Bürgisser, Petra E; Laan, Sebastiaan N J; Korenke, Georg Christoph; Honzík, Tomáš; Beysen, Diane; Leebeek, Frank W G; Skehel, Paul A; van den Biggelaar, Maartje; Carter, Tom; Bierings, Ruben

Reprogramming of endolysosomes for melanogenesis in BLOC-1-deficient melanocytes.

BLOC-1 缺陷型黑素细胞中内溶酶体黑素生成的重编程

Goff Philip S, Patel Shyamal, Harper Dawn C, Carter Tom, Marks Michael S, Sviderskaya Elena V

Development and characterization of novel jGCaMP8f calcium sensor variants with improved kinetics and fluorescence response range.

开发和表征具有改进的动力学和荧光响应范围的新型 jGCaMP8f 钙传感器变体

Tran Oanh, Hughes Holly J, Carter Tom, Török Katalin

Clinician's Commentary on Lawrence et al.(1)

临床医生对 Lawrence 等人(1)的评论

Carter, Tom

GDP/GTP exchange factor MADD drives activation and recruitment of secretory Rab GTPases to Weibel-Palade bodies

GDP/GTP交换因子MADD驱动分泌型Rab GTP酶的激活和募集至Weibel-Palade小体。

Kat, Marije; Bürgisser, Petra E; Janssen, Hans; De Cuyper, Iris M; Conte, Ianina L; Hume, Alistair N; Carter, Tom; Voorberg, Jan; Margadant, Coert; Bierings, Ruben

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

结节性硬化症的罕见表现和恶性肿瘤:来自结节性硬化症登记处提高疾病认识 (TOSCA) 的发现

Sauter, Matthias; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; de Vries, Petrus J; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna; Kingswood, J Chris

TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex

结节性硬化症登记研究旨在提高人们对该疾病的认识(TOSCA):依维莫司在结节性硬化症患者中的上市后安全性研究

Kingswood, J Chris; Belousova, Elena; Benedik, Mirjana P; Budde, Klemens; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; d'Augères, Guillaume B; de Vries, Petrus J; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna C

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

结节性硬化症相关癫痫的诊断、治疗和预后历史模式:来自TOSCA注册研究的结果

Nabbout, Rima; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; Beaure d'Augères, Guillaume; de Vries, Petrus J; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; O'Callaghan, Finbar; Qin, Jiong; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Jansen, Anna C; Kingswood, J Chris

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

结节性硬化症 (TSC) 相关神经精神疾病 (TAND) 的自然聚集:TOSCA TAND 研究项目的新发现

de Vries, Petrus J; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; D'Amato, Lisa; Beure d'Augères, Guillaume; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, J Chris; Jansen, Anna C

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype

结节性硬化症相关神经精神障碍(TAND):年龄、性别和基因型与智力表型关系的新发现

de Vries, Petrus J; Belousova, Elena; Benedik, Mirjana P; Carter, Tom; Cottin, Vincent; Curatolo, Paolo; Dahlin, Maria; D'Amato, Lisa; Beaure d'Augères, Guillaume; Ferreira, José C; Feucht, Martha; Fladrowski, Carla; Hertzberg, Christoph; Jozwiak, Sergiusz; Lawson, John A; Macaya, Alfons; Marques, Ruben; Nabbout, Rima; O'Callaghan, Finbar; Qin, Jiong; Sander, Valentin; Sauter, Matthias; Shah, Seema; Takahashi, Yukitoshi; Touraine, Renaud; Youroukos, Sotiris; Zonnenberg, Bernard; Kingswood, John C; Jansen, Anna C