Wevers RA - Search Results

1

Early life adversity and serotonin transporter gene variation interact at the level of the adrenal gland to affect the adult hypothalamo-pituitary-adrenal axis.

van der Doelen RH, Deschamps W, D'Annibale C, Peeters D, Wevers RA, Zelena D, Homberg JR, Kozicz T. van der Doelen RH, et al. Among authors: wevers ra. Transl Psychiatry. 2014 Jul 8;4(7):e409. doi: 10.1038/tp.2014.57. Transl Psychiatry. 2014. PMID: 25004389 Free PMC article.

2

Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.

Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Binkhorst M, et al. Among authors: wevers ra. J Inherit Metab Dis. 2012 May;35(3):399-405. doi: 10.1007/s10545-011-9425-2. Epub 2011 Dec 2. J Inherit Metab Dis. 2012. PMID: 22134542 Free PMC article.

3

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: wevers ra. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713

4

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: wevers ra. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805 Free article.

5

Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features.

Smeets EE, Span PN, van Herwaarden AE, Wevers RA, Hermus AR, Sweep FC, Claahsen-van der Grinten HL. Smeets EE, et al. Among authors: wevers ra. J Clin Endocrinol Metab. 2015 Mar;100(3):E524-30. doi: 10.1210/jc.2014-2036. Epub 2014 Dec 8. J Clin Endocrinol Metab. 2015. PMID: 25485724

6

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA. Leen WG, et al. Among authors: wevers ra. JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. JAMA Neurol. 2013. PMID: 23999624 Review.

7

The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explained.

Wassenberg T, Monnens LA, Geurtz BP, Wevers RA, Verbeek MM, Willemsen MA. Wassenberg T, et al. Among authors: wevers ra. JIMD Rep. 2012;4:39-45. doi: 10.1007/8904_2011_84. Epub 2011 Nov 2. JIMD Rep. 2012. PMID: 23430895 Free PMC article.

8

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA. Leen WG, et al. Among authors: wevers ra. Neurology. 2013 Dec 10;81(24):e178-81. doi: 10.1212/01.wnl.0000437294.20817.99. Neurology. 2013. PMID: 24323444 Review.

9

Alpha-fetoprotein, a fascinating protein and biomarker in neurology.

Schieving JH, de Vries M, van Vugt JM, Weemaes C, van Deuren M, Nicolai J, Wevers RA, Willemsen MA. Schieving JH, et al. Among authors: wevers ra. Eur J Paediatr Neurol. 2014 May;18(3):243-8. doi: 10.1016/j.ejpn.2013.09.003. Epub 2013 Sep 29. Eur J Paediatr Neurol. 2014. PMID: 24120489 Review.

10

Cerebrospinal fluid homocysteine and the cobalamin status of the brain.

Blom HJ, Wevers RA, Verrips A, TePoele-Pothoff MT, Trijbels JM. Blom HJ, et al. Among authors: wevers ra. J Inherit Metab Dis. 1993;16(3):517-9. doi: 10.1007/BF00711669. J Inherit Metab Dis. 1993. PMID: 7609440 No abstract available.

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