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Karlien Mul
Karlien Mul
未知所在单位机构
在 radboudumc.nl 的电子邮件经过验证
标题
引用次数
引用次数
年份
What's in a name? The clinical features of facioscapulohumeral muscular dystrophy
K Mul, S Lassche, NC Voermans, GW Padberg, CGC Horlings, ...
Practical neurology 16 (3), 201-207, 2016
1312016
Adding quantitative muscle MRI to the FSHD clinical trial toolbox
K Mul, SCC Vincenten, NC Voermans, RJLF Lemmers, PJ van der Vliet, ...
Neurology 89 (20), 2057-2065, 2017
862017
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
K Mul, CGC Horlings, SCC Vincenten, NC Voermans, BGM van Engelen, ...
Journal of neurology 265, 2646-2655, 2018
722018
Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy
RJM Goselink, K Mul, CR Van Kernebeek, RJLF Lemmers, ...
Neurology 92 (4), e378-e385, 2019
432019
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
S LoRusso, NE Johnson, MP McDermott, K Eichinger, RJ Butterfield, ...
BMC neurology 19, 1-13, 2019
402019
Effects of weakness of orofacial muscles on swallowing and communication in FSHD
K Mul, KN Berggren, MY Sills, A McCalley, BGM van Engelen, ...
Neurology 92 (9), e957-e963, 2019
392019
Facioscapulohumeral muscular dystrophy: the road to targeted therapies
MS Tihaya, K Mul, J Balog, JC de Greef, SJ Tapscott, R Tawil, JM Statland, ...
Nature Reviews Neurology 19 (2), 91-108, 2023
362023
FSHD type 2 and Bosma arhinia microphthalmia syndrome: two faces of the same mutation
K Mul, RJLF Lemmers, M Kriek, PJ van der Vliet, ML van den Boogaard, ...
Neurology 91 (6), e562-e570, 2018
352018
Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1
K Mul, NC Voermans, RJLF Lemmers, MA Jonker, PJ van der Vliet, ...
Clinical Genetics 94 (6), 521-527, 2018
332018
Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy
K Mul, CGC Horlings, NC Voermans, THA Schreuder, BGM van Engelen
Neuromuscular Disorders 28 (6), 508-511, 2018
322018
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2
RJLF Lemmers, PJ van der Vliet, J Balog, JJ Goeman, W Arindrarto, ...
European Journal of Human Genetics 26 (1), 94-106, 2018
322018
Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy
RJM Goselink, THA Schreuder, K Mul, NC Voermans, CE Erasmus, ...
Neurology 94 (14), e1488-e1494, 2020
312020
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands
K Mul, J Kinoshita, H Dawkins, B Van Engelen, R Tupler, VA Ferreira, ...
Neuromuscular Disorders 27 (8), 782-790, 2017
252017
Management of sporadic duodenal adenomas and the association with colorectal neoplasms: a retrospective cohort study
BWH van Heumen, K Mul, ID Nagtegaal, MCA van Kouwen, ...
Journal of clinical gastroenterology 46 (5), 390-396, 2012
242012
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)
RJM Goselink, THA Schreuder, K Mul, NC Voermans, M Pelsma, ...
BMC neurology 16, 1-8, 2016
222016
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
A van den Heuvel, S Lassche, K Mul, A Greco, D San León Granado, ...
Scientific Reports 12 (1), 1426, 2022
202022
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
G Giacomucci, M Monforte, J Diaz‐Manera, K Mul, R Fernandez Torrón, ...
European Journal of Neurology 27 (12), 2604-2615, 2020
202020
Meeting report: the 2021 FSHD international research congress
S Jagannathan, JC de Greef, LJ Hayward, K Yokomori, D Gabellini, K Mul, ...
Skeletal Muscle 12 (1), 1, 2022
192022
Characterizing the face in facioscapulohumeral muscular dystrophy
TGJ Loonen, CGC Horlings, SCC Vincenten, CHG Beurskens, S Knuijt, ...
Journal of Neurology 268, 1342-1350, 2021
192021
Variability in electrodiagnostic findings associated with neurogenic thoracic outlet syndrome
K Mul, N Pesser, K Vervaart, J Teijink, B van Nuenen, N van Alfen
Muscle & Nerve 65 (1), 34-42, 2022
182022
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