Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Nick Kruijt"'
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:
Luuk R. van den Bersselaar, Nens van Alfen, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A. Fernandez-Garcia, Susan Treves, Sheila Riazi, Chu-Ya Yang, Ignacio Malagon, Lucas T. van Eijk, Baziel G.M. van Engelen, Gert-Jan Scheffer, Heinz Jungbluth, Marc M.J. Snoeck, Nicol C. Voermans
Publikováno v:
Journal of Neuromuscular Diseases. :1-14
Background: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c779ebf0005654c3a7cbabdbb3d52cd
https://doi.org/10.3233/jnd-230018
https://doi.org/10.3233/jnd-230018
Autor:
Luuk R van den Bersselaar, M. Snoeck, Coen C. W. G. Bongers, Heinz Jungbluth, Nick Kruijt, Nicol C. Voermans, Susan Treves, Sheila Riazi
Publikováno v:
Sports Medicine, 52, 669-672
Sports Medicine, 52, 3, pp. 669-672
Sports Medicine, 52, 3, pp. 669-672
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19636184553ece467efb0404a7ffd51
https://hdl.handle.net/2066/248854
https://hdl.handle.net/2066/248854
Autor:
Luuk R van den Bersselaar, Heinz Jungbluth, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A Fernandez-Garcia, Susan Treves, Sheila Riazi, Ignacio Malagon, Lucas T van Eijk, Nens van Alfen, Baziel G M van Engelen, Gert-Jan Scheffer, Marc M J Snoeck, Nicol C Voermans
Publikováno v:
Brain Communications, 4, 6
Brain Communications, 4
Brain Communications, 4
Malignant hyperthermia and exertional rhabdomyolysis have conventionally been considered episodic phenotypes that occur in otherwise healthy individuals in response to an external trigger. However, recent studies have demonstrated a clinical and hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758c39e491b11ba53cf29549c5c927ac
https://doi.org/10.1093/braincomms/fcac292
https://doi.org/10.1093/braincomms/fcac292
Autor:
Jildou N. Dijkstra, Eline Boon, Nick Kruijt, Esther Brusse, Sithara Ramdas, Heinz Jungbluth, Baziel G.M. van Engelen, Jon Walters, Nicol C. Voermans
Publikováno v:
Practical Neurology, 23, 23-34
Practical Neurology, 23, 1, pp. 23-34
Practical Neurology, 23, 1, pp. 23-34
Item does not contain fulltext Muscle cramps are painful, sudden, involuntary muscle contractions that are generally self-limiting. They are often part of the spectrum of normal human physiology and can be associated with a wide range of acquired and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69c336fd35533cfd0404957071bf3539
https://pubmed.ncbi.nlm.nih.gov/36522175
https://pubmed.ncbi.nlm.nih.gov/36522175
Autor:
J. Wijma, Erik-Jan Kamsteeg, Nicol C. Voermans, L. Van Den Bersselaar, J. Neville, Nick Kruijt, Heinz Jungbluth, M. Snoeck, Cornelis Kramers, Wim Verbeeck, Marieke J H Coenen
Publikováno v:
Neuromuscular Disorders, 30, 12, pp. 949-958
Neuromuscular Disorders, 30, 949-958
Neuromuscular Disorders, 30, 949-958
Contains fulltext : 229439.pdf (Publisher’s version ) (Open Access) Neuroleptic malignant syndrome and serotonin syndrome are two syndromes whose molecular bases remain poorly understood. The phenotypes of both syndromes overlap with other syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87541afb268b9b7e0f7643b5ec33b84e
https://doi.org/10.1016/j.nmd.2020.10.010
https://doi.org/10.1016/j.nmd.2020.10.010
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies
Autor:
Christoph, Bachmann, Martina, Franchini, Luuk R, Van den Bersselaar, Nick, Kruijt, Nicol C, Voermans, Karlijn, Bouman, Erik-Jan, Kamsteeg, Karl Christian, Knop, Lucia, Ruggiero, Lucio, Santoro, Yoram, Nevo, Jo, Wilmshurst, John, Vissing, Michael, Sinnreich, Daniele, Zorzato, Francesco, Muntoni, Heinz, Jungbluth, Francesco, Zorzato, Susan, Treves
Publikováno v:
Brain communications. 4(5)
Congenital myopathies are a group of early onset muscle diseases of variable severity often with characteristic muscle biopsy findings and involvement of specific muscle types. The clinical diagnosis of patients typically relies on histopathological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ebdb728deff8bffb4b902f2432e35ba
https://pubmed.ncbi.nlm.nih.gov/36196089
https://pubmed.ncbi.nlm.nih.gov/36196089
Autor:
M. Snoeck, Susan Treves, Heinz Jungbluth, Coen C. W. G. Bongers, Kees Kramers, Sheila Riazi, Nick Kruijt, Nicol C. Voermans, Luuk R van den Bersselaar
Publikováno v:
Current Pharmaceutical Design, 28, 2-14
Current Pharmaceutical Design, 28, 1, pp. 2-14
Current Pharmaceutical Design, 28, 1, pp. 2-14
Variants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range of neuromuscular conditions, including various congenital myopathies and malignant hyperthermia (MH). More recently, a number of RYR1 variants, mostly MH-associat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af702f1a9b93396e06196ac883021eb3
http://hdl.handle.net/2066/248650
http://hdl.handle.net/2066/248650
Autor:
Nick Kruijt, L. Van Den Bersselaar, Corrie E. Erasmus, Nicol C. Voermans, Heinz Jungbluth, D.S. Everaerd, E. Kamsteeg, Wim Verbeeck, M. Snoeck, D.R.M. Jansen, W.F. Abdo
Publikováno v:
European Journal of Neurology, 28, 647-659
European Journal of Neurology, 28, 2, pp. 647-659
European Journal of Neurology
European Journal of Neurology, 28, 2, pp. 647-659
European Journal of Neurology
Background and purpose Rhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Rhabdomyolysis events are provoked by exposure to external trig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c0436461c82855423007e93be3d5363
http://hdl.handle.net/2066/231548
http://hdl.handle.net/2066/231548
Autor:
Leonie Helder, Stan Buckens, Nicol C. Voermans, Ignacio Malagon, Nens van Alfen, Gert Jan Scheffer, Anna Greco, M.M.J. Snoeck, Baziel G.M. van Engelen, José A. E. Custers, Lucas T. van Eijk, Sheila Riazi, Luuk R van den Bersselaar, Nick Kruijt, Heinz Jungbluth, Susan Treves, Leo A. B. Joosten
Publikováno v:
Medicine (Baltimore), 100, 33
Medicine (Baltimore), 100
Medicine
Medicine (Baltimore), 100
Medicine
Contains fulltext : 238097.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Malignant hyperthermia (MH) and exertional rhabdomyolysis (ERM) have long been considered episodic phenotypes occurring in response to external triggers in otherwise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d863f4d0358e938c0e6125b1216cfee1
https://doi.org/10.1097/MD.0000000000026999
https://doi.org/10.1097/MD.0000000000026999