Zobrazeno 1 - 10
of 14
pro vyhledávání: '"N C, Voermans"'
Autor:
E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, N. C. Voermans, Nicol C. Voermans
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background SELENON-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive axial muscle weakness, rigidity of the spine, scoliosis, and respiratory insufficiency. Laminin-a2-related muscular dystrophy
Externí odkaz:
https://doaj.org/article/e37f4d0091164ff29b157e0a38585486
Autor:
R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 171-181 (2024)
Abstract Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein (ISPD), fukutin‐related protein (FKRP), and fukutin (FKTN) genes. Th
Externí odkaz:
https://doaj.org/article/1815c6e982004a889620da37199c4367
Autor:
Nick Kruijt, L. R. van den Bersselaar, M. T. E. Hopman, M. M. J. Snoeck, M. van Rijswick, T. G. H. Wiggers, H. Jungbluth, C. C. W. G. Bongers, N. C. Voermans
Publikováno v:
Sports Medicine - Open, Vol 9, Iss 1, Pp 1-17 (2023)
Abstract Introduction Exertional heat stroke (EHS) is a medical emergency, occurring when the body generates more heat than it can dissipate, and frequently associated with exertional rhabdomyolysis (ERM). In the present study we aimed to (I) identif
Externí odkaz:
https://doaj.org/article/d5c8d3ac818141f190d970a8f4063379
Autor:
W. A. van de Geest-Buit, N. B. Rasing, K. Mul, J. C. W. Deenen, S. C. C. Vincenten, I. Siemann, A. Lanser, J. T. Groothuis, B. G. van Engelen, J. A. E. Custers, N. C. Voermans
Publikováno v:
Disability and Rehabilitation, 45, 15, pp. 2507-2516
Contains fulltext : 294350.pdf (Publisher’s version ) (Open Access) PURPOSE: To assess the psychosocial outcomes of facial weakness in facioscapulohumeral muscular dystrophy (FSHD). MATERIALS AND METHODS: A cross-sectional survey study. The severit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf73e1e25ddadd90a532746951fa73e0
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/294350
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/294350
Autor:
E L van Voorthuizen, J B Peters, H A Van Helvoort, A A Stoffels, N C Voermans, H W Van Hees, J Doorduin, B Van Den Borst, A Stoffels
Publikováno v:
10.01 - Respiratory infections and bronchiectasis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2143aad424e935498644f69bfc610ba
https://doi.org/10.1183/13993003.congress-2022.956
https://doi.org/10.1183/13993003.congress-2022.956
Autor:
M G E, Te Riele, T H A, Schreuder, N, van Alfen, M, Bergman, S, Pillen, B W, Smits, G J, van der Wilt, H, Groenewoud, N C, Voermans, B G M, van Engelen
Publikováno v:
Neuromuscular disorders : NMD. 27(3)
Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dcf3fe2e0244e32ddf9579b99a8e137f
https://pubmed.ncbi.nlm.nih.gov/28082206
https://pubmed.ncbi.nlm.nih.gov/28082206
Autor:
N C, Voermans, A E, Laan, A, Oosterhof, T H, van Kuppevelt, G, Drost, M, Lammens, E J, Kamsteeg, C, Scotton, F, Gualandi, V, Guglielmi, L, van den Heuvel, G, Vattemi, B G, van Engelen
Publikováno v:
Neuromuscular Disorders, 22, 11, pp. 944-54
Neuromuscular Disorders, 22, 944-54
Neuromuscular Disorders, 22, 944-54
Item does not contain fulltext Brody disease is a rare inherited myopathy due to reduced sarcoplasmic reticulum Ca(2+) ATPase (SERCA)1 activity caused by mutations in ATP2A1, which causes delayed muscle relaxation and silent cramps. So far the diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9fc1dc66935049460f424a8f8f7fe7aa
http://hdl.handle.net/11562/425137
http://hdl.handle.net/11562/425137
Autor:
N C, Voermans, M, Guillard, R, Doedée, M, Lammens, M, Huizing, G W, Padberg, R A, Wevers, B G, van Engelen, D J, Lefeber
Publikováno v:
Clinical neuropathology. 29(2)
We present a comprehensive report of two siblings with hereditary inclusion body myopathy (HIBM). The clinical features and histological characteristics of the muscle biopsies showed the typical pattern of predominantly distal vacuolar myopathy with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab70a9f304ffee3ed63645a37c7b9c32
https://pubmed.ncbi.nlm.nih.gov/20175955
https://pubmed.ncbi.nlm.nih.gov/20175955
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 150(19)
A 72-year-old man presented to the emergency clinic with motor restlessness and diminished consciousness 24 hours after he had mistakenly been given venlafaxine. He was referred from the psychiatric clinic where he was treated with tranylcypromine. S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a15a7a957f1937bb59fd7459e6eec92
https://pubmed.ncbi.nlm.nih.gov/16927475
https://pubmed.ncbi.nlm.nih.gov/16927475
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 149(25)
During her first pregnancy, a 37-year-old woman with idiopathic generalised epilepsy that was adequately controlled with lamotrigine experienced a series of epileptic seizures following an elective caesarean section. The attacks were terminated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3d783528ed9cc18269cefc50a69075e1
https://pubmed.ncbi.nlm.nih.gov/15997694
https://pubmed.ncbi.nlm.nih.gov/15997694