Spinocerebellar disorders

Autor: H. P. H. Kremer, J. B. M. Kuks, J. W. Snoek

Publikováno v: Textbook of Clinical Neurology ISBN: 9789036821414

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2936de2a5b5b77470add103e2574843
https://doi.org/10.1007/978-90-368-2142-1_25

Spinocerebellaire aandoeningen

Autor: H. P. H. Kremer

Publikováno v: Leerboek klinische neurologie ISBN: 9789036813334

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3beb038f218842d71a6405c1dd48a260
https://doi.org/10.1007/978-90-368-1334-1_25

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study

Autor: Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren, Michèl A. A. P. Willemsen

Publikováno v: Human mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abeba07fac21609ce343b6b0ed845f1e
https://pubmed.ncbi.nlm.nih.gov/22213089

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

Autor: A H Stam, M D Ferrari, J. Haan, K R J Vanmolkot, H.B. Ginjaar, A.M.J.M. van den Maagdenberg, W. S. Frankhuizen, E E Kors, Rune R. Frants, E Leshinsky-Silver, R Gilad, G M Terwindt, H P H Kremer, Jutta Gärtner, J. Brown

Publikováno v: Clinical Genetics, 74, 5, pp. 481-5
Clinical Genetics, 74, 481-5

Contains fulltext : 70291.pdf (Publisher’s version ) (Closed access) Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65166defbaa02853de53f305d9c08e05
https://hdl.handle.net/2066/70291

Clinical Use of the Determination of Serotonin in Whole Blood

Autor: G. M. J. Van Kempen, Jaap G. Goekoop, H. P. H. Kremer

Publikováno v: Journal of Clinical Psychopharmacology. 10:83-87

Whole blood serotonin (5-hydroxytryptamine, 5-HT) was assayed, and factors possibly influencing 5-HT content were investigated in healthy controls. No significant circadian rhythm or effect of dexamethasone or meals was observed. After use of fluvoxa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e26996a8815c5ddbcd9ace2c80c0a4
https://doi.org/10.1097/00004714-199004000-00002