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

Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice

湿度会影响恶性高热易感小鼠对挥发性麻醉剂和热的反应。

He, Miao; Riazi, Sheila; van den Bersselaar, Luuk R; Islander, Gunilla; Gillies, Robyn; Hellblom, Anna; Voermans, Nicol C; Temurziev, Sultan; Jungbluth, Heinz; Dirksen, Robert T

The expanding clinical and genetic spectrum of DYNC1H1-related disorders

DYNC1H1相关疾病的临床和遗传谱不断扩大

Möller, Birk; Becker, Lena-Luise; Saffari, Afshin; Afenjar, Alexandra; Coci, Emanuele G; Williamson, Rachel; Ward-Melver, Catherine; Gibaud, Marc; Sedláčková, Lucie; Laššuthová, Petra; Libá, Zuzana; Vlčková, Markéta; William, Nancy; Klee, Eric W; Gavrilova, Ralitza H; Lévy, Jonathan; Capri, Yline; Scavina, Mena; Körner, Robert Walter; Valivullah, Zaheer; Weiß, Claudia; Möller, Greta Marit; Frazier, Zoë; Roberts, Amy; Gener, Blanca; Scala, Marcello; Striano, Pasquale; Zara, Federico; Thiel, Moritz; Sinnema, Margje; Kamsteeg, Erik-Jan; Donkervoort, Sandra; Duboc, Veronique; Zaafrane-Khachnaoui, Khaoula; Elkhateeb, Nour; Selim, Laila; Margot, Henri; Marin, Victor; Beneteau, Claire; Isidor, Bertrand; Cogne, Benjamin; Keren, Boris; Küsters, Benno; Beggs, Alan H; Sveden, Abigail; Chopra, Maya; Genetti, Casie A; Nicolai, Joost; Dötsch, Jörg; Koy, Anne; Bönnemann, Carsten G; von der Hagen, Maja; von Kleist-Retzow, Jürgen-Christoph; Voermans, Nicol C; Jungbluth, Heinz; Dafsari, Hormos Salimi

Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study

儿童期发病面肩肱型肌营养不良症的纵向研究:一项为期5年的自然史研究

Dijkstra, Jildou N; Boon, Helena T M; Koekkoek, Anne; Goselink, Rianne J M; Pelsma, Maaike M; Van Alfen, Nens; Houwen-van Opstal, Saskia L S; Van Engelen, Baziel G M; Voermans, Nicol C; Erasmus, Corrie E

Optical genome mapping enables accurate testing of large repeat expansions

光学基因组图谱能够对大片段重复序列扩增进行精确检测

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D; Lee, Joyce; Burke, Stephanie L; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A; Voermans, Nicol C; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A; Vissers, Lisenka E L M; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander

The Facioscapulohumeral Muscular Dystrophy Rasch-Built Overall Disability Scale (FSHD-RODS): Longitudinal Assessment of a Disease-Specific Patient Reported Outcome

面肩肱型肌营养不良症Rasch-Built总体残疾量表(FSHD-RODS):疾病特异性患者报告结局的纵向评估

Teeselink, Sjan; Vincenten, Sanne C C; Voermans, Nicol C; van Alfen, Nens; van Engelen, Baziel G M; Mul, Karlien

A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials

一项为期5年的面肩肱型肌营养不良症患者自然史队列研究,旨在确定疾病进展情况以及临床试验中临床结果评估的可行性。

Kools, Joost; Vincenten, Sanne; van Engelen, Baziel G M; Voet, Nicoline B M; Merkies, Ingemar; Horlings, Corinne G C; Voermans, Nicol C; Mul, K

Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures

Tenascin-X 缺乏症可导致人类出现类似经典型的埃勒斯-当洛斯综合征 1 型,这是胃肠道和气管破裂的重要危险因素。

van Gurp, Jonneke E; Lechner, Rosan L; Micha, Dimitra; Maugeri, Alessandra; Dulfer, Eelco; van Dijk, Fleur S; Keszthelyi, Daniel; Malfatti, Edoardo; Kubo, Akiharu; Voermans, Nicol C; Demirdas, Serwet

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

Thermoregulation during exercise under controlled hot ambient conditions is comparable in individuals with a history of exertional heat stroke, RYR1-related malignant hyperthermia, and healthy controls

在受控高温环境条件下,运动期间的体温调节能力在有运动性中暑史、RYR1相关恶性高热病史的个体和健康对照组中相当。

Kruijt, Nick; van de Camp, Sanne A J H; Hopman, Maria T E; van den Bersselaar, Luuk R; Jungbluth, Heinz; Eijsvogels, Thijs M H; Voermans, Nicol C; Bongers, Coen C W G

KBTBD13 is an actin-binding protein that modulates muscle kinetics

KBTBD13是一种肌动蛋白结合蛋白,可调节肌肉动力学。

de Winter, Josine M; Molenaar, Joery P; Yuen, Michaela; van der Pijl, Robbert; Shen, Shengyi; Conijn, Stefan; van de Locht, Martijn; Willigenburg, Menne; Bogaards, Sylvia Jp; van Kleef, Esmee Sb; Lassche, Saskia; Persson, Malin; Rassier, Dilson E; Sztal, Tamar E; Ruparelia, Avnika A; Oorschot, Viola; Ramm, Georg; Hall, Thomas E; Xiong, Zherui; Johnson, Christopher N; Li, Frank; Kiss, Balazs; Lozano-Vidal, Noelia; Boon, Reinier A; Marabita, Manuela; Nogara, Leonardo; Blaauw, Bert; Rodenburg, Richard J; Küsters, Benno; Doorduin, Jonne; Beggs, Alan H; Granzier, Henk; Campbell, Ken; Ma, Weikang; Irving, Thomas; Malfatti, Edoardo; Romero, Norma B; Bryson-Richardson, Robert J; van Engelen, Baziel Gm; Voermans, Nicol C; Ottenheijm, Coen Ac