K. Mul

Most-cited papers

1. What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

   K. Mul, S. Lassche, N. Voermans, G. Padberg +2 more

   2016Practical Neurology116 citations

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2. Adding quantitative muscle MRI to the FSHD clinical trial toolbox

   K. Mul, S. Vincenten, N. Voermans, R. Lemmers +5 more

   2017Neurology89 citations Open access

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3. Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers

   K. Mul, C. Horlings, S. Vincenten, N. Voermans +2 more

   2018Journal of Neurology81 citations Open access

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4. Facioscapulohumeral muscular dystrophy: the road to targeted therapies

   Mara S. Tihaya, K. Mul, J. Balog, J. D. de Greef +4 more

   2023Nature Reviews Neurology57 citations Open access

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5. Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

   R. Goselink, K. Mul, C. V. van Kernebeek, R. Lemmers +7 more

   2018Neurology50 citations Open access

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6. Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

   S. Lorusso, N. Johnson, M. McDermott, K. Eichinger +13 more

   2019BMC Neurology49 citations Open access

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7. Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1

   K. Mul, N. Voermans, R. Lemmers, M. Jonker +5 more

   2018Clinical Genetics42 citations Open access

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8. Effects of weakness of orofacial muscles on swallowing and communication in FSHD

   K. Mul, Kiera N. Berggren, M. Sills, Ayla Mccalley +3 more

   2019Neurology40 citations Open access

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9. Muscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy

   R. Goselink, T. Schreuder, K. Mul, N. Voermans +3 more

   2020Neurology38 citations

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10. 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 +7 more

    2022Scientific Reports32 citations Open access

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11. FSHD type 2 and Bosma arhinia microphthalmia syndrome

    K. Mul, R. Lemmers, M. Kriek, P. van der Vliet +19 more

    2018Neurology31 citations Open access

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12. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

    R. Lemmers, P. van der Vliet, J. Balog, J. Goeman +13 more

    2017European Journal of Human Genetics29 citations Open access

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13. Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome

    S. Vincenten, K. Mul, D. van As, Julia J. Jansen +4 more

    2023Journal of Cachexia, Sarcopenia and Muscle28 citations Open access

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14. Lifetime endogenous estrogen exposure and disease severity in female patients with facioscapulohumeral muscular dystrophy.

    K. Mul, C. Horlings, N. Voermans, T. Schreuder +1 more

    2018Neuromuscular Disorders25 citations Open access

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15. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

    G. Giacomucci, M. Monforte, J. Díaz-Manera, K. Mul +19 more

    2020European Journal of Neurology24 citations Open access

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16. Characterizing the face in facioscapulohumeral muscular dystrophy

    T. G. J. Loonen, C. Horlings, S. Vincenten, C. Beurskens +7 more

    2020Journal of Neurology24 citations Open access

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17. 225th ENMC international workshop:: A global FSHD registry framework, 18-20 November 2016, Heemskerk, The Netherlands.

    K. Mul, J. Kinoshita, H. Dawkins, B. V. van Engelen +1 more

    2017Neuromuscular Disorders24 citations Open access

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18. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

    R. Goselink, T. Schreuder, K. Mul, N. Voermans +10 more

    2016BMC Neurology22 citations Open access

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19. Establishing the role of muscle ultrasound as an imaging biomarker in facioscapulohumeral muscular dystrophy.

    S. Vincenten, S. Teeselink, N. Voermans, B. V. van Engelen +2 more

    2023Neuromuscular Disorders21 citations Open access

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20. Meeting report: the 2021 FSHD International Research Congress

    S. Jagannathan, J. D. de Greef, L. Hayward, K. Yokomori +6 more

    2022Skeletal Muscle21 citations Open access

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21. Electrical impedance myography in facioscapulohumeral muscular dystrophy: a one year follow-up study

    K. Mul, C. Heatwole, K. Eichinger, N. Dilek +4 more

    2018Muscle and Nerve21 citations Open access

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22. Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives

    Lisa Rahm, Melissa A. Hale, Renée H. L. Raaijmakers, Alexandra Marrero Quiñones +4 more

    2025Nature Reviews Neurology20 citations Open access

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23. Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.

    M. Marra, Linda Heskamp, K. Mul, S. Lassche +3 more

    2017Neuromuscular Disorders20 citations Open access

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24. Variability in electrodiagnostic findings associated with neurogenic thoracic outlet syndrome

    K. Mul, N. Pesser, Kimberly Vervaart, J. Teijink +2 more

    2021Muscle and Nerve19 citations Open access

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25. Rasch analysis to evaluate the motor function measure for patients with facioscapulohumeral muscular dystrophy

    K. Mul, C. Horlings, C. Faber, B. V. van Engelen +1 more

    2020International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation18 citations Open access

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26. The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

    K. Mul, T. Hamadeh, C. Horlings, R. Tawil +7 more

    2021European Journal of Neurology17 citations Open access

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27. A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.

    R. Goselink, C. V. van Kernebeek, K. Mul, R. Lemmers +6 more

    2018European journal of paediatric neurology17 citations

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28. IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy

    Anna Greco, K. Mul, Martin Jaeger, J. D. Dos Santos +8 more

    2024Journal of Neuromuscular Diseases16 citations Open access

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29. The complementary use of muscle ultrasound and MRI in FSHD: Early versus later disease stage follow-up.

    S. Vincenten, N. Voermans, D. Cameron, B. V. van Engelen +2 more

    2024Clinical Neurophysiology16 citations Open access

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30. Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations.

    S. Vincenten, S. Teeselink, K. Mul, Linda Heskamp +8 more

    2025Neuromuscular Disorders15 citations Open access

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31. 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.

    F. Montagnese, K. de Valle, R. Lemmers, K. Mul +2 more

    2023Neuromuscular Disorders15 citations Open access

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

    J. Kools, S. Vincenten, B. V. van Engelen, Nicoline B. M. Voet +4 more

    2024Muscle and Nerve14 citations Open access

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33. Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

    M. Signorelli, A. G. Mason, K. Mul, T. Evangelista +7 more

    2020Scientific Reports14 citations Open access

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34. Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophy

    W. van de Geest-Buit, N. Rasing, K. Mul, J. C. Deenen +7 more

    2022Disability and Rehabilitation13 citations Open access

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35. Experiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study

    S. Sezer, E. Cup, Lieve M Roets-Merken, A. Lanser +6 more

    2021Disability and Rehabilitation13 citations Open access

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36. Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy

    S. Teeselink, S. Vincenten, N. Voermans, J. Groothuis +5 more

    2022Journal of Neurology12 citations Open access

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37. Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

    S. Vincenten, N. van der Stoep, A. Paulussen, K. Mul +7 more

    2021Clinical Genetics12 citations Open access

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38. Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

    K. Mul, M. L. van den Boogaard, S. M. van der Maarel, B. V. van Engelen

    2016Current Opinion in Neurology11 citations

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39. Improving Heckmatt muscle ultrasound grading scale through Rasch analysis.

    J. Wijntjes, C. Saris, J. Doorduin, N. van Alfen +2 more

    2024Neuromuscular Disorders10 citations Open access

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40. Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases

    N. Rasing, W. van de Geest-Buit, On-Ying A. Chan, K. Mul +8 more

    2023Disability and Rehabilitation10 citations Open access

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41. The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound

    S. Vincenten, J. V. van Doorn, S. Teeselink, N. Rasing +5 more

    2024Muscle and Nerve9 citations Open access

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42. Comprehensive four-year disease progression assessment of myotonic dystrophy type 1.

    L. L. la Fontaine, J. Bruijnes, F. Smulders, C. Gorissen-Brouwers +9 more

    2024Neuromuscular Disorders8 citations Open access

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43. Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies

    A. Greco, Kirsten R. Straasheijm, K. Mul, A. van den Heuvel +4 more

    2021Journal of Neuromuscular Diseases8 citations Open access

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44. Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy.

    J. Kools, W. Aerts, Erik H. Niks, K. Mul +5 more

    2023Neuromuscular Disorders7 citations Open access

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45. Development and validation of the patient-reported “Facial Function Scale” for facioscapulohumeral muscular dystrophy

    K. Mul, Feri Wijayanto, T. Loonen, P. Groot +7 more

    2022Disability and Rehabilitation7 citations Open access

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46. Semi‐automated Rasch analysis using in‐plus‐out‐of‐questionnaire log likelihood

    Feri Wijayanto, K. Mul, P. Groot, B. V. van Engelen +1 more

    2020British Journal of Mathematical & Statistical Psychology7 citations Open access

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47. A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.

    K. Mul, M. Schouten, E. van der Looij, D. Dooijes +7 more

    2020Parkinsonism & Related Disorders7 citations Open access

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48. Facioscapulohumeral Muscular Dystrophy

    K. Mul

    2022Continuum5 citations

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49. Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.

    K. Leeuwenberg, V. Sansone, Johanna I. Hamel, Man Hung +24 more

    2026Neurology4 citations

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50. Electrical impedance myography captures features of muscle structure measured by MRI and transcriptomic analysis in facioscapulohumeral muscular dystrophy

    Leo H. Wang, Buket Sonbas-Cobb, Lara I. Riem, O. DuCharme +12 more

    2025Journal of Neuromuscular Diseases4 citations Open access

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