Zobrazeno 1 - 10
of 20
pro vyhledávání: '"I B, Ginjaar"'
Autor:
Michel D. Ferrari, Gisela M. Terwindt, I. B. Ginjaar, Joost Haan, B. T. Poll-The, A.M.J.M. van den Maagdenberg, Anine H. Stam, Gert-Jan Luijckx, Rune R. Frants
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry, 80(10), 1125-1129. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry, 80(10), 1125-1129. BMJ Publishing Group
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 80(10), 1125-1129. BMJ PUBLISHING GROUP
Journal of Neurology, Neurosurgery and Psychiatry, 80(10), 1125-1129. BMJ Publishing Group
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 80(10), 1125-1129. BMJ PUBLISHING GROUP
Objective: To study the clinical spectrum of CACNA1A S218L mutation carriers with special attention to "early seizures and cerebral oedema after trivial head trauma (ESCEATHT)", a combination of symptoms which resembles the "juvenile head trauma synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc64eb7f4eb83b44f9ede71d95a8a2cf
https://hdl.handle.net/11245/1.321993
https://hdl.handle.net/11245/1.321993
Publikováno v:
Microscopy Research and Technique. 30:458-468
Duchenne muscular dystrophy (DMD) is frequently associated with myocardial involvement. Dystrophin, the DMD protein, is found at the plasmamembrane of striated muscle fibers. Although dystrophin is missing in most or all muscle fibers of DMD patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6a091a6576d66c4641bf35afe014147
https://doi.org/10.1002/jemt.1070300603
https://doi.org/10.1002/jemt.1070300603
Autor:
J L Welch, J.T. den Dunnen, I. B. Ginjaar, Ann Curtis, T J Butler, M A Johnson, D. Gardner-Medwin, Egbert Bakker, K. Bushby, L V Nicholson
Publikováno v:
Journal of Medical Genetics. 30:745-751
This report is the third part of a trilogy from a multidisciplinary study which was undertaken to investigate gene and protein expression in a large cohort of patients with well defined and diverse clinical phenotypes. The aim of part 3 was to review
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfceb1d5bd94ba065e08fda12d3b8a8e
https://doi.org/10.1136/jmg.30.9.745
https://doi.org/10.1136/jmg.30.9.745
Publikováno v:
Neuropediatrics. 24:93-97
Details of disease progression and dystrophin expression are presented for three patients with Duchenne muscular dystrophy (DMD) who unexpectedly had intragenic deletions which maintained the open reading frame for mRNA translation. Analysis of dystr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846e195fafbd0bc6123631c2116eb56a
https://doi.org/10.1055/s-2008-1071521
https://doi.org/10.1055/s-2008-1071521
Publikováno v:
Biochemical Journal. 288:663-668
A group of 44 monoclonal antibodies (mAbs) raised against the central helical rod (25 mAbs) and C-terminal (19 mAbs) regions of dystrophin were prepared using trpE recombinant fusion proteins as immunogens. Some mAbs cross-react with the structurally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee9e26ba3dd56f83146c2954d49ff66e
https://doi.org/10.1042/bj2880663
https://doi.org/10.1042/bj2880663
Autor:
M. M. B. Van Paassen, Antoon F.M. Moorman, Andy Wessels, J.T. den Dunnen, I. B. Ginjaar, Egbert Bakker, G.J.B. van Ommen, E. E. Zubrzycka-Gaarn
Publikováno v:
Journal of medical genetics, 28(8), 505-510. BMJ Publishing Group
We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD, using antisera directed against regions located NH2-proximally and centrally in the rod shaped spectrin-like domain and against the COOH-term
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a054499f21a89b9a6e3982a7574759b
https://doi.org/10.1136/jmg.28.8.505
https://doi.org/10.1136/jmg.28.8.505
Publikováno v:
Muscle & nerve, 14(1), 1-7. John Wiley and Sons Inc.
Duchenne and Becker muscular dystrophy are caused by defects in dystrophin synthesis. Using affinity-purified polyclonal anti-dystrophin antibodies, we have studied immunohistochemically the subcellular localization of dystrophin in embryonic, fetal,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9983fa69353688595c418bd05f23e82
https://doi.org/10.1002/mus.880140102
https://doi.org/10.1002/mus.880140102
Autor:
Rune R. Frants, I. B. Ginjaar, G.M. Terwindt, JP Haas, B. B. A. De Vries, Laem Laan, Amjm van den Maagdenberg, Ferrari, K R J Vanmolkot, Joost Haan, AH Stam, Friederike Beker, H Lauffer
Publikováno v:
Cephalalgia : an international journal of headache. 28(8)
Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a mono
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea5671b62b665063758357a7f623b36c
https://pubmed.ncbi.nlm.nih.gov/18498393
https://pubmed.ncbi.nlm.nih.gov/18498393
Autor:
Gijs W. E. Santen, J.T. den Dunnen, Subaashini Natarajan, Iulia Munteanu, A. Foley, I. B. Ginjaar, Nicola Roberts, Erik H. Niks, Tamieka Whyte, Dick Lindhout, Caroline Sewry, Jenny Sharpe, S. Torelli, Jennifer E. Morgan, Diego De Stefani, F. Muntoni, Matthew E. Hurles, Colin A. Johnson, Karen Pysden, Rahul Phadke, Helen Roper, Anne-Marie Childs, David A. Parry, Eamonn Sheridan, Anna Raffaello, Gyorgy Szabadkai, Katarzyna Szymanska, Yu Sun, Marjolein Kriek, Zakia Abdelhamed, Michael R. Duchen, Rosario Rizzuto, Clare V. Logan, W.L. van der Pol, Gabrielle Wheway, David T. Bonthron
Publikováno v:
Neuromuscular Disorders. 24:S13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3f6b9c7e095047bea0afcde09a2b05e
https://doi.org/10.1016/s0960-8966(14)70040-9
https://doi.org/10.1016/s0960-8966(14)70040-9
Autor:
I. B. Ginjaar, G.J.B. van Ommen, Charles H.C.M. Buys, AH van der Hout, Egbert Bakker, L.P. ten Kate, A. J. van Essen, A. L. J. Kneppers, Hans Scheffer
Publikováno v:
van Essen, A J, Kneppers, A L J, van der Hout, A H, Scheffer, H, Ginjaarl, B, ten Kate, L P, Ommen, G J B, Buys, C H C M & Bakker, E 1997, ' The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ', Journal of Medical Genetics, vol. 34, pp. 805-812 . https://doi.org/10.1136/jmg.34.10.805
Journal of Medical Genetics, 34, 805-812. BMJ Publishing Group
Journal of Medical Genetics, 34, 805-812. BMJ Publishing Group
Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b932eec1e0a0fd8e2a4ff84a27a3cb4
https://research.vumc.nl/ws/files/10006605/115420
https://research.vumc.nl/ws/files/10006605/115420
