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Nicol C. Voermans

Radboud University Medical Center

49H指数
487论文数
9.2K被引数
收录论文 154
发表时间
An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participationRYR1相关疾病国际患者调查:患者对参与临床试验的观点
err2026-09-29
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PREAI
errLizan Stinissen; Sanne A.J.H. van de Camp; Brentney Simon; Lindsay Goldberg; Baziel G.M. van Engelen; Kirsten E. Bevelander; Wija Oortwijn; Nicol C. Voermans;
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Nemaline Myopathy Patient and Caregiver Perspectives: A Multinational Cross-Sectional Studynemaline肌病患者和护理人员视角:一项跨国横断面研究
err2026-09-16
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PREAI
errStacy A. Cossette; Sanne A.J.H. van de Camp; Lucinda M. Lee; Matthias R. Lambert; Laurent Servais; Nicol C Voermans
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Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study
err2026-08-14
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PREAI
errOlga Prikhodko; Tatyana A. Vetter; Sophie Colombo; Chris Freitag; Dominique Nijkamp; Louise Eyler; Leen Thielemans; Jonathan Baets; Mads Stemmerik; John Vissing; Ros Quinlivan; Michela Guglieri; Federica Montagnese; Benedikt Schoser; Frederik Braun; Ulrike Schara; Kris E. Leeuwenberg; Nens van Alfen; Michael W. Lawlor; Belinda S Cowling; Nicol C. Voermans
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Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysisRYR1相关恶性高热和运动性横纹肌溶解症患者报告的症状、疲劳、功能损害及生活质量
err2026-08-01
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PREAI
errvan den Bersselaar, Luuk R.; Kruijt, Nick; Kamsteeg, Erik-Jan; Fernandez-Garcia, Miguel A.; Treves, Susan; Yang, Chu-Ya; Laarhuis, Babette; Malagon, Ignacio; Scheffer, Gert-Jan; Jungbluth, Heinz; Snoeck, Marc M. J.; Custers, Jose A. E.; Voermans, Nicol C.
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Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6Kbtbd13基因敲低在临床相关性的 nemaline myopathy type 6 小鼠模型中恢复肌肉功能
err2026-06-24
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PREAI
errRicardo A. Galli; Leander A. Vonk; Rianne J. Baelde; Anita van den Heuvel; Sylvia Bogaards; Stefan Conijn; Emma Siteur; Olga Alekhina; Henk Granzier; Thomas Irving; Weikang Ma; Karlijn Bouman; Baziel van Engelen; Silvère M. van der Maarel; Tyler J. Kirby; Nicol Voermans; Josine de Winter; Coen A.C. Ottenheijm
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Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials儿童期起病的面肩肱型肌营养不良症:从首发症状到未来试验
err2026-05-01
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PREAI
errDijkstra, Jildou N.; Erasmus, Corrie E.; Laurian, Pierre; Roets, Ally; Dodd, Matthew; Irving, Kathryn; Moreno, Cristiane Araujo Martins; Woodcock, Ian R.; Voermans, Nicol C.; Willis, Tracey; Mathews, Katherine; de Valle, Katy
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Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path Forward指导神经肌肉障碍患者骨骼健康与骨质疏松管理的关键原则和疾病特异性考量:前进之路
err2026-03-05
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PREAI
errDavid R. Weber; Antimo Moretti; Anne T. M. Dittrich; Chiara Panicucci; Sara Liguori; Ingrid de Groot; Madelon Kroneman; Silke Schlüter; Kristl G. Claeys; Nicola J. Crabtree; Corrie E. Erasmus; Andrea Del Fattore; Michela Guglieri; Giovanni Iolascon; Anna Kostera-Pruszczyk; Marianne de Visser; Sze Choong Wong; Claire L. Wood; Nicol C. Voermans; Leanne M. Ward
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Overview of Facioscapulohumeral Dystrophy Clinical Features and Diagnostic Pathway面肩肱型肌营养不良症的临床特征与诊断路径概述
err2026-02-27
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errBrianna N. Brun; Neil Camarta; Nick Johnson; Benedikt Schoser; Jeff Statland; Nicol C. Voermans
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Liver Health in Myotubular and Centronuclear Myopathies: A Patient-Driven data collection study to better understand liver health and improve standards of care肌管性肌病和中心核肌病中的肝脏健康:一项由患者驱动的数据收集研究,以更好地了解肝脏健康并改善护理标准
err2026-02-27
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PREAI
errJulie Bohill; Lucy Hickson; Erin Ward; Anne Lennox; Anando Sen; Tmirah Haselkorn; Belinda Cowling; Marie Wood; Mark Ward; Anil Dhawan; Eirini Kyrana; Robert J. Graham; James J. Dowling; Michael W. Lawlor; Alan H. Beggs; Nicol C Voermans; Heinz Jungbluth; A. Reghan Foley; Chiara Marini-Bettolo
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Humidity impacts volatile anesthetic and heat responses of malignant hyperthermia susceptible mice湿度影响恶性高热易感小鼠的挥发性麻醉剂和热反应
err2026-01-09
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errOAAI
errMiao He; Sheila Riazi; Luuk R. van den Bersselaar; Gunilla Islander; Robyn Gillies; Anna Hellblom; Nicol C. Voermans; Sultan Temurziev; Heinz Jungbluth; Robert T. Dirksen
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Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms成人Noonan综合征和Noonan综合征伴多发色素斑:神经病理性疼痛与神经增粗对健康相关生活质量及神经症状的影响
err2026-01-01
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errOAAI
errDraaisma, Jos M. T.; Reintjes, Wesley; Leenders, Erika; Draaisma, Fieke; Burgers, Melanie; Kleimeier, Lotte; Tartaglia, Marco; Klaassens, Merel; Becks, Ruud; Renes, Steven; Wingbermuhle, Ellen; Voermans, Nicol C.; van Alfen, Nens
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A toolkit for new facioscapulohumeral muscular dystrophy trial sites新面肩肱型肌营养不良症临床试验中心的工具包
err2025-12-26
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errJoost Kools; Lawrence Korngut; Janet Petrillo Ballantyne; Irene Roozen; Ria de Haas; Amanda Hill; Teresinha Evangelista; Valeria A Sansone; Richard Roxburgh; Hanns Lochmuller; Jeff Statland; Nicholas E Johnson; Nicol Voermans
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Janus kinase and calcineurin-inhibitor combination in anti-MDA5 dermatomyositis: No significant survival benefit but reassuring safety profileJanus kinase与钙调神经磷酸酶抑制剂联合治疗抗-MDA5皮肌炎:无显著生存获益但安全性特征令人放心
err2025-11-01
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errPagis, Valentine; Astouati, Quentin; Pacoureau, Lucas; Nguyen, Yann; Bay, Pierre; Roux, Antoine; Gallay, Laure; Cottin, Vincent; Terrier, Benjamin; Meyer, Alain; Cerf, Charles; Neuville, Mathilde; Hervier, Baptiste; Renaud, Arthur; Suzon, Benoit; Schleinitz, Nicolas; Papo, Thomas; Priou, Pascaline; Mekinian, Arsene; Ullmer, Audrey; Oehler, Erwan; Gensous, Noemie; Berezne, Alice; Martin, Luc De Saint; Marhadour, Thierry; Martin, Mickael; Servettaz, Amelie; Samson, Maxime; Gilardin, Laurent; Charles, Pierre; Woessner, Juliette; Carmoi, Thierry; Dilly, Baptiste; Mauhin, Wladimir; Baillet, Nicolas; Humbert, Sebastien; Thoreau, Benjamin; Lemaitre, Marine; Pendu, Claire Le; Loiseau, Pierre; Quemeneur, Thomas; Blanchard, Elodie; Voermans, Nicol; Launay, David; Nunes, Hilario; Benveniste, Olivier; Uzunhan, Yurdagul; Allenbach, Yves
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Health-related quality of life, pain, and fatigue in myotonic dystrophy type 2: a 13-year follow-up study
err2025-10-01
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PREAI
errDamen, M. J.; Mul, K.; Van Engelen, B. G. M.; Voermans, N. C.; Tieleman, A. A.
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