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

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

REEP1 积累破坏内质网完整性,导致远端遗传性运动神经病脊髓运动神经元退化。

Bock Andrea, Schurig Mona, Willoughby Miles, Mirecki Andrea, Seemann Eric, Lohachova Kateryna, Katona Istvan, Mittag Sonnhild, Liebmann Lutz, Franzka Patricia, Heidari Horestani Mehdi, Khundadze Mukhran, Mosler Thorsten, Louie Timothy, de Visser Marianne, Weterman Marian A J, Kiehntopf Michael, Beetz Christian, Nietzsche Sandor, Huber Otmar, Weis Joachim, Kessels Michael M, Bhaskara Ramachandra M, Qualmann Britta, Đikić Ivan, Hübner Christian A

Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies

寻找其他致病变异以解释PMP22相关神经病变的变异

van Paassen, Barbara W; Verhamme, Camiel; van Ruissen, Fred; Haagmans, Martin A; Dijkgraaf, Marcel G W; De Visser, Marianne; Baas, Frank; Van Der Kooi, Anneke J; Weterman, Marian A J

The impact of frailty on adverse outcomes after transcatheter aortic valve replacement in older adults: A retrospective cohort study

老年患者经导管主动脉瓣置换术后不良结局与衰弱的关系:一项回顾性队列研究

Dautzenberg, Lauren; van Aarle, Tessa T M; Stella, Pieter R; Emmelot-Vonk, Marielle; Weterman, Marcel A; Koek, Huiberdina L

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

CMT2N 患者中高功能和低功能的 AARS 等位基因增加了临床和分子异质性

Weterman, Marian A J; Kuo, Molly; Kenter, Susan B; Gordillo, Sara; Karjosukarso, Dyah W; Takase, Ryuichi; Bronk, Marieke; Oprescu, Stephanie; van Ruissen, Fred; Witteveen, Ron J W; Bienfait, Henriette M E; Breuning, Martijn; Verhamme, Camiel; Hou, Ya-Ming; de Visser, Marianne; Antonellis, Anthony; Baas, Frank

A phase Ib study of everolimus combined with metformin for patients with advanced cancer

一项针对晚期癌症患者的依维莫司联合二甲双胍的Ib期研究

Molenaar, Remco J; van de Venne, Tim; Weterman, Mariëtte J; Mathot, Ron A; Klümpen, Heinz-Josef; Richel, Dick J; Wilmink, Johanna W

Images of God and attitudes towards death in relation to spiritual wellbeing: an exploratory side study of the EORTC QLQ-SWB32 validation study in palliative cancer patients

上帝形象和死亡态度与精神健康的关系:EORTC QLQ-SWB32 验证研究在姑息性癌症患者中的探索性辅助研究

Kruizinga, Renske; Scherer-Rath, Michael; Schilderman, Johannes B A M; Weterman, Mariëtte; Young, Teresa; van Laarhoven, Hanneke W M

A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease

LRSAM1基因突变将夏科-马里-图斯病2型与帕金森病联系起来

Aerts, Marjolein B; Weterman, Marian A J; Quadri, Marialuisa; Schelhaas, H Jurgen; Bloem, Bastiaan R; Esselink, Rianne A; Baas, Frank; Bonifati, Vincenzo; van de Warrenburg, Bart P

Phase II study of capecitabine and the oral mTOR inhibitor everolimus in patients with advanced pancreatic cancer

卡培他滨联合口服 mTOR 抑制剂依维莫司治疗晚期胰腺癌患者的 II 期研究

Kordes, S; Klümpen, H J; Weterman, M J; Schellens, J H M; Richel, D J; Wilmink, J W

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

CLP1 创始突变将 tRNA 剪接和成熟与小脑发育和神经退行性联系起来

Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, Miriam S Reuter, Eric Scott, Nicole G Coufal, Jennifer L Silhavy, Yuanchao Xue, Hulya Kayserili, Katsuhito Yasuno, Rasim Ozgur Rosti, Mostafa Abdellateef, Caner Caglar, Paul R Kasher, J Leonie Cazemier, Marian A Weterman, Vincent Cantagrel

A phase I/II, non-randomized, feasibility/safety and efficacy study of the combination of everolimus, cetuximab and capecitabine in patients with advanced pancreatic cancer

一项针对晚期胰腺癌患者的依维莫司、西妥昔单抗和卡培他滨联合疗法的I/II期非随机可行性/安全性及疗效研究

Kordes, Sil; Richel, Dick J; Klümpen, Heinz-Josef; Weterman, Mariëtte J; Stevens, Arnoldus J W M; Wilmink, Johanna W