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Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls
Francesco Muntoni A, James Signorovitch, Gautam Sajeev, Nathalie Goemans, Brenda L. Y. Wong, Cuixia Tian, +12 more
40citations -
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th–December 1st 20192020 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
J. Hendriksen, Mathula Thangarajh, Hermien E. Kan, Francesco Muntoni A, Y. Aoki, Dr M. Colvin, +20 more
32citations -
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Federica Montagnese, Katy de Valle, Richard J.L.F. Lemmers, Karlien Mul, Julie Dumonceaux, Nicol Cornelia Voermans, +18 more
19citations -
Muscle imaging in facioscapulohumeral muscular dystrophy research: A scoping review and expert recommendations2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sanne C. C. Vincenten, Sjan Teeselink, Karlien Mul, Linda Heskamp, Hermien E. Kan, Arend Heerschap, +6 more
12citations -
BMI-z scores of boys with Duchenne muscular dystrophy already begin to increase before losing ambulation: a longitudinal exploration of BMI, corticosteroids and caloric intake2022 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Saskia L.S. Houwen-van Opstal, Laura Rodwell, Daphne Bot, Anja Daalmeyer, Michèl A.A.P. Willemsen, Erik Harmen Niks, +1 more
10citations -
Towards harmonization of clinical tools for assessing Brain Involvement in Dystrophinopathies (BIND); report of four expert workshops: Newcastle, Leiden, Rome, Paris2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Jos G.M. Hendriksen, Pien M. M. Weerkamp, Rubén Miranda, Anna I. Kolesnik, Daniela Chieffo, David Skuse, +4 more
7citations -
Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Joost Kools, Willem Aerts, Erik Harmen Niks, Karlien Mul, Lisa Pagan, Jake S.F. Maurits, +3 more
7citations -
269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy – What have we learned? 9–11 December 2022, Hoofddorp, The Netherlands2023 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Karin J. Naarding, Georgia Stimpson, Susan J. Ward, Nathalie Goemans, Craig M. McDonald, Eugenio Maria Mercuri, +18 more
6citations -
Population-based incidence rates of 15 neuromuscular disorders: a nationwide capture-recapture study in the Netherlands2024 Neuromuscular Disorders article Medicine Neurogenetic and Muscular Disorders Research Open access
Johanna C.W. Deenen, Corinne G.C. Horlings, Nicol Cornelia Voermans, Pieter A. van Doorn, Catharina Gerritdina Faber, Anneke J. van der Kooi, +8 more
5citations -
Genotype and corticosteroid treatment are distinctively associated with gray matter characteristics in patients with Duchenne muscular dystrophy2024 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Sam Geuens, Jeroen Van Dessel, Hermien E. Kan, Rosanne Govaarts, Erik Harmen Niks, Nathalie Goemans, +3 more
5citations -
The complexity of dystrophin transcription and processing: implications of transcript imbalance on dystrophin gene targeting strategies2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Rachele Rossi, Annemieke M Aartsma-Rus, Francesco Muntoni A, Aurélie Goyenvalle, Pietro Spitali
3citations -
The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model2022 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Ali Alqallaf, Sarah Engelbeen, Angela Palo, Federico Cutrupi, C. Tanganyika-de Winter, Jaap J. Plomp, +4 more
3citations -
P301 Novel JAG2 variants in the first identified Dutch patient with limb-girdle muscular dystrophy R27 and a neuropsychiatric phenotype2023 Neuromuscular Disorders conference-abstract Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders
Esther J. Schrama, Erik Harmen Niks, Sjoerd G. van Duinen, Nick van der Beek, Marjolein Kriek, Umesh A. Badrising, +1 more
3citations -
286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025
Jodi Warman‐Chardon, Volker W. Straub, John Vissing, Sarah Schlaeger, Hermien E. Kan, Pierre G. Carlier, +3 more
2citations