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

An Innovative Transitional Care Unit for Hospital to Home Transition of Children With Medical Complexity: A Qualitative Study of Parents' Experiences

针对患有复杂疾病的儿童从医院过渡到家庭的创新型过渡护理单元:一项关于家长体验的定性研究

Haspels, Heleen N; Skomorowski, Nicole; Joosten, Koen F M; de Hoog, Matthijs; van Woensel, Job B M; van Karnebeek, Clara D; Alsem, Mattijs W

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

什么最重要?为遗传性智力障碍患者制定核心患者报告结局指标集:一项国际德尔菲研究

van Silfhout, Nadia Y; van Muilekom, Maud M; Menke, Leonie A; van Karnebeek, Clara D; Haverman, Lotte; van Eeghen, Agnies M

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice

利用AAV-miRNA进行AASS治疗性抑制可挽救小鼠戊二酸尿症I型严重表型。

Segur-Bailach, Eulàlia; Mateu-Bosch, Anna; Bofill-De Ros, Xavier; Parés, Marta; da Silva Buttkus, Patricia; Rathkolb, Birgit; Gailus-Durner, Valérie; Hrabě de Angelis, Martin; Moeini, Pedram; Gonzalez-Aseguinolaza, Gloria; Tort, Frederic; Ribes, Antonia; van Karnebeek, Clara D M; García-Villoria, Judit; Fillat, Cristina

Structure Elucidation for MALDI Mass Spectrometry Imaging Using Infrared Ion Spectroscopy

利用红外离子光谱进行MALDI质谱成像的结构解析

Schuurman, Jelle L; van Tetering, Lara; Houthuijs, Kas J; Kooijman, Pieter; Gailus-Durner, Valerie; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Engelke, Udo F H; Lefeber, Dirk J; van Karnebeek, Clara D M; Wevers, Ron A; Grgic, Andrej; Balluf, Benjamin; Vandenbosch, Michiel; Vreeken, Rob; Heeren, Ron M A; Berden, Giel; Oomens, Jos; Martens, Jonathan

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

靶向 AASS 可减轻神经毒性,并改善吡哆醇依赖性癫痫星形胶质细胞模型中的线粒体功能。

Schuurmans Imke M E, Engelke Udo, Abedrabbo Muna, Puvogel Sofía, Mijdam Rachel, Scholten Gijs-Jan, van Katwijk Sara B, Oudakker Astrid, Al-Shekaili Hilal H, Lefeber Dirk J, Leavitt Blair R, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

ALDH7A1 缺乏引起的吡哆醇依赖性癫痫的新疗法:小鼠上游酶抑制原理的首次验证

van Karnebeek, Clara D M; Gailus-Durner, Valérie; Engelke, Udo F; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabě de Angelis, Martin; Wevers, Ron A; Coughlin, Curtis R; Lefeber, Dirk J

Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review

临床试验中使用的患者报告结局和遗传性智力障碍患者的核心结局指标集:范围界定综述

van Silfhout, Nadia Y; van Muilekom, Maud M; van Karnebeek, Clara D; Daams, Joost G; Haverman, Lotte; van Eeghen, Agnies M

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects

为氨酰tRNA合成酶(ARS)1缺乏症的治疗奠定基础:表型特征及治疗效果综述

Hoytema van Konijnenburg, Eva M M; Rohof, Joline; Kok, Gautam; van Hasselt, Peter M; van Karnebeek, Clara D; Muffels, Irena J J; Fuchs, Sabine A

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study

脉络膜和视网膜回旋状萎缩(GACR)的新见解:一项队列研究

Balfoort, Berith M; Van den Broeck, Filip; Boon, Camiel J F; Brouwers, Martijn C G J; Diederen, Roselie M H; Dhillon, Preet; van Hasselt, Peter M; Jaeger, Bregje; Karuntu, Jessica S; Rennings, Alexander J M; van Spronsen, Francjan J; Timmer, Corrie; Wagenmakers, Margreet A E M; De Zaeytijd, Julie; Leroy, Bart P; Schulze, Andreas; van Karnebeek, Clara D; Brands, Marion M