Voermans, Nicol C.

The Ehlers–Danlos syndromes, rare types

Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 258

Neurological and spinal manifestations of the Ehlers–Danlos syndromes

Henderson, F. C., Austin, C., Benzel, E., Bolognese, P., Ellenbogen, R., Francomano, C. A., Ireton, C., Klinge, P., Koby, M., Long, D., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 238

Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Voermans, N. C., Knoop, H., Bleijenberg, G., & van Engelen, B. G. (2010) · Journal of Pain and Symptom Management

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 237

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 143

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Seelen, M., van Doormaal, P. T. C., Visser, A. E., Huisman, M. H. B., Roozekrans, M. H. J., de Jong, S. W., van der Kooi, A. J., de Visser, M., Voermans, N. C., Veldink, J. H., et al. (2014) · Journal of Neurology

Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders Research

Cited by 104

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

Voermans, N. C., & Knoop, H. (2011) · Disability and Rehabilitation

Connective tissue disorders researchMusculoskeletal pain and rehabilitation

Cited by 81

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Demirdas, S., Dulfer, E., Robert, L., Kempers, M., van Beek, D., Micha, D., van Engelen, B. G., Hamel, B., Schalkwijk, J., Loeys, B., et al. (2017) · Clinical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 60

Bi-allelic AEBP1 mutations in two patients with Ehlers–Danlos syndrome

Syx, D., De Wandele, I., Symoens, S., De Rycke, R., Hougrand, O., Voermans, N., De Paepe, A., & Malfait, F. (2019) · Human Molecular Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

Titin-based stiffening of muscle fibers in Ehlers-Danlos Syndrome

Ottenheijm, C. A. C., Voermans, N. C., Hudson, B. D., Irving, T., Stienen, G. J. M., van Engelen, B. G., & Granzier, H. (2012) · Journal of Applied Physiology

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 40

Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation

Voermans, N. C., Kempers, M., Lammens, M., van Alfen, N., Janssen, M. C., Bönnemann, C., van Engelen, B. G., & Hamel, B. C. (2012) · American Journal of Medical Genetics Part A

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36

Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patients

Voermans, N. C., Altenburg, T. M., Hamel, B. C., de Haan, A., & van Engelen, B. G. (2007) · Neuromuscular Disorders

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 36

A novel role for the extracellular matrix glycoprotein‐Tenascin‐X in gastric function

Aktar, R., Peiris, M., Fikree, A., Eaton, S., Kritas, S., Kentish, S. J., Araujo, E. J. A., Bacarin, C., Page, A. J., Voermans, N. C., et al. (2019) · The Journal of Physiology

Gastrointestinal motility and disordersCongenital gastrointestinal and neural anomalies

Cited by 25

Neuromuscular properties of the thigh muscles in patients with ehlers–danlos syndrome

Gerrits, K. H. L., Voermans, N. C., de Haan, A., & van Engelen, B. G. (2013) · Muscle & Nerve

Connective tissue disorders researchMuscle Physiology and Disorders

Cited by 18

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

van de Geest-Buit, W. A., Rasing, N. B., Mul, K., Deenen, J. C. W., Vincenten, S. C. C., Siemann, I., Lanser, A., Groothuis, J. T., van Engelen, B. G., Custers, J. A. E., et al. (2023) · Disability and Rehabilitation

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 13

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

Sezer, S., Cup, E. H. C., Roets-Merken, L. M., Lanser, A., Siemann, I., Weikamp, J. G., Mul, K., van Engelen, B. G., Satink, T., & Voermans, N. C. (2022) · Disability and Rehabilitation

Muscle Physiology and DisordersNeurogenetic and Muscular Disorders Research

Cited by 12

Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study

Abel, E. E. D. H., Cup, E. H. C., Lanser, A., Leclercq, W. K. G., Raaphorst, J., Padberg, G. W., Satink, T., & Voermans, N. C. (2018) · Neuromuscular Disorders

Bariatric Surgery and OutcomesObesity and Health Practices

Cited by 6