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Orphanet Journal of Rare Diseases|August 7, 2025
Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mappingN van Engelen, H M van Santen, F van Dijk, et al.Disability and Rehabilitation|July 11, 2022
Facing facial weakness: psychosocial outcomes of facial weakness and reduced facial function in facioscapulohumeral muscular dystrophyW A van de Geest-Buit, N B Rasing, K Mul, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 25, 2023
Effectiveness of an outpatient rehabilitation programme in patients with neuralgic amyotrophy and scapular dyskinesia: a randomised controlled trialRenske M J Janssen, Renee Lustenhouwer, Edith H C Cup, et al.Journal of Immunological Methods|September 13, 2003
Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophyS van Koningsbruggen, H de Haard, P de Kievit, et al.American Journal of Physiology. Heart and Circulatory Physiology|October 16, 2020
Estimating central blood pressure from aortic flow: development and assessment of algorithmsJorge Mariscal-Harana, Peter H Charlton, Samuel Vennin, et al.Neuromuscular Disorders : NMD|December 5, 2006
The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary dataB G M van Engelen, H van Veenendaal, P A van Doorn, et al.Clinical Chemistry|March 18, 2006
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathologyAntoon J M Janssen, Frans J M Trijbels, Rob C A Sengers, et al.Muscle & Nerve|March 31, 2026
Development and Validation of a Deep Learning-Based Facial Weakness Score for Objective Assessment in Facioscapulohumeral Muscular DystrophyT G J Loonen, T C Ten Harkel, S C C Vincenten, et al.Journal of Medical Genetics|February 22, 2023
Germline pathogenic <i>SMARCA4</i> variants in neuroblastomaLeora Witkowski, Kim E Nichols, Marjolijn Jongmans, et al.Psychogeriatrics : the Official Journal of the Japanese Psychogeriatric Society|April 3, 2024
Social cognition differentiates phenocopy syndrome of behavioural variant frontotemporal dementia from behavioural variant frontotemporal dementiaMarie-Paule E van Engelen, Paulette Louwers, Jay L P Fieldhouse, et al.Pageof 84