Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Genetical and metabolic aspects of neuromuscular diseases"'
Publikováno v:
Annals of Neurology, 46, 4, pp. 667-670
Annals of Neurology, 46, 667-670
Annals of Neurology, 46, 667-670
Item does not contain fulltext 4 p.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::74dd8a274bcbf575fccac9b977003740
https://doi.org/10.1002/1531-8249(199910)46:4<667::aid-ana19>3.3.co
https://doi.org/10.1002/1531-8249(199910)46:4<667::aid-ana19>3.3.co
Publikováno v:
Neuropediatrics, 31, 1-3
Neuropediatrics, 31, pp. 1-3
Neuropediatrics, 31, pp. 1-3
A previously healthy 11-year old girl with three episodes of alternating facial palsy is described. On examination during the third relapse a severe essential hypertension was diagnosed, accompanied by abnormalities on cerebral imaging, cardiac and f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8bcfee9deed2283e030ec8f1cc60458
https://pubmed.ncbi.nlm.nih.gov/11508553
https://pubmed.ncbi.nlm.nih.gov/11508553
Autor:
Christine Oley, Jennifer M. Kwon, Murray Hargrave, Toshiya Yamada, Vincent Timmerman, Peter Koopman, Carmel Toomes, P. De Jonghe, K.M Nield, Melissa H. Little, Hannie Kremer, Michael J. Dixon, H. T. F. M. Verzijl, Kristy M. James, Kylie Georgas, Timothy J. Sullivan
Publikováno v:
Human genetics
Human Genetics, 106, pp. 432-439
Human Genetics, 106, 432-439
Human Genetics, 106, pp. 432-439
Human Genetics, 106, 432-439
Members of the Sox gene family encode transcription factors that have diverse and important functions during development. We have recently described the cloning of chick and mouse Sox14 and the expression of these genes in a population of ventral int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::559f8b40f35bfffee2706ecb48951562
https://hdl.handle.net/10067/281500151162165141
https://hdl.handle.net/10067/281500151162165141
Publikováno v:
Journal of Neurology, 246, 623-625
Journal of Neurology, 246, 7, pp. 623-625
Journal of Neurology, 246, 7, pp. 623-625
Sirs: Acquired neuromyotonia (or Isaacs’ syndrome) is characterized by hyperexcitability of (sudo)motor nerves that results in continuous muscle fiber activity (myokymia), muscle cramps, weakness, and excessive sweating [1]. It has been considered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba1cbbec849f52c79615c2afcdc0e33
http://hdl.handle.net/2066/185959
http://hdl.handle.net/2066/185959
Publikováno v:
Archives of Neurology, 56, pp. 1410-1411
Archives of Neurology, 56, 1410-1411
Archives of Neurology, 56, 1410-1411
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdb3a9253cda8c3a09eeeaabfc60f61
https://doi.org/10.1001/archneur.56.11.1410
https://doi.org/10.1001/archneur.56.11.1410
Publikováno v:
Muscle and Nerve, 22, pp. 704-711
Muscle and Nerve, 22, 704-711. John Wiley & Sons, Inc.
Muscle and Nerve, 22, 704-711
de Ruiter, C J, Wevers, R A, van Engelen, B G M & Verdijk, P W L 1999, ' Muscle function in a patient with brody's disease ', Muscle and Nerve, vol. 22, pp. 704-711 . https://doi.org/10.1002/(SICI)1097-4598(199906)22:6<704::AID-MUS6>3.0.CO;2-Z
Muscle and Nerve, 22, 704-711. John Wiley & Sons, Inc.
Muscle and Nerve, 22, 704-711
de Ruiter, C J, Wevers, R A, van Engelen, B G M & Verdijk, P W L 1999, ' Muscle function in a patient with brody's disease ', Muscle and Nerve, vol. 22, pp. 704-711 . https://doi.org/10.1002/(SICI)1097-4598(199906)22:6<704::AID-MUS6>3.0.CO;2-Z
Adductor pollicis muscle function of a 21-year-old man with genetically confirmed Brody's disease (sarcoplasmic reticulum [SR] -Ca2+ATPase deficiency) was investigated to study the possible effects of reduced SR-Ca2+ATPase activity on muscle relaxati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a945e1e926e496eb5270d29dc78095a
https://hdl.handle.net/2066/184820
https://hdl.handle.net/2066/184820
Autor:
Verzijl, H.T.F.M., Engelen, B.G.M. van, Luyten, J.A.F.M., Steenbergen-Spanjers, G.C.H., Heuvel, L.P.W.J. van den, Laak, H.J. ter, Padberg, G.W.A.M., Wevers, R.A.
Publikováno v:
Annals of Neurology, 45, pp. 548
Annals of Neurology, 45, 548
Annals of Neurology, 45, 548
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cb6706f1353722776d50f4cb5cc69be2
https://repository.ubn.ru.nl/handle/2066/257731
https://repository.ubn.ru.nl/handle/2066/257731
Autor:
F.J.M. Gabreëls, B.G.M. van Engelen, Willy O. Renier, Jacques H. Veerkamp, Ron A. Wevers, A.A.G.M. Benders
Publikováno v:
The Journal of Neuroscience, 156, 1, pp. 35-40
The Journal of Neuroscience, 156, 35-40
The Journal of Neuroscience, 156, 35-40
A human intravenous immunoglobulin preparation (IVIg) released Ca2+ from the sarcoplasmic reticulum of cultured human skeletal muscle cells in a dose-dependent manner. Blocking the dihydropyridine-ryanodine receptor complex abrogated the IVIg-mediate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562fe4a4a1237a0c358a6ab7b6504c7b
https://pubmed.ncbi.nlm.nih.gov/9559984
https://pubmed.ncbi.nlm.nih.gov/9559984
Autor:
Jeroen Luyten, Gerry Steenbergen, H. T. F. M. Verzijl, George W. Padberg, Ron A. Wevers, L.P.W.J. van den Heuvel, H.J. ter Laak, B.G.M. van Engelen
Publikováno v:
Annals of Neurology, 44, 140-143
Annals of Neurology, 44, 1, pp. 140-143
Annals of Neurology, 44, 1, pp. 140-143
Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678899daa2eea2f1a301bb93b801dbb6
http://hdl.handle.net/2066/257825
http://hdl.handle.net/2066/257825