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 | 131 | 2016 |
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 | 86 | 2017 |
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 | 72 | 2018 |
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 | 43 | 2019 |
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 | 40 | 2019 |
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 | 39 | 2019 |
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 | 36 | 2023 |
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 | 35 | 2018 |
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 | 33 | 2018 |
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 | 32 | 2018 |
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 | 32 | 2018 |
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 | 31 | 2020 |
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 | 25 | 2017 |
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 | 24 | 2012 |
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 | 22 | 2016 |
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 | 20 | 2022 |
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 | 20 | 2020 |
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 | 19 | 2022 |
Characterizing the face in facioscapulohumeral muscular dystrophy TGJ Loonen, CGC Horlings, SCC Vincenten, CHG Beurskens, S Knuijt, ... Journal of Neurology 268, 1342-1350, 2021 | 19 | 2021 |
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 | 18 | 2022 |