Wevers RA - Search Results

1

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

Wallon D, Guyant-Maréchal L, Laquerrière A, Wevers RA, Martinaud O, Kluijtmans LA, Yntema HG, Saugier-Veber P, Hannequin D. Wallon D, et al. Among authors: wevers ra. Clin Neuropathol. 2010 Nov-Dec;29(6):361-4. doi: 10.5414/npp29361. Clin Neuropathol. 2010. PMID: 21073839

2

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA. Verrips A, et al. Among authors: wevers ra. Hum Genet. 1996 Dec;98(6):735-7. doi: 10.1007/s004390050294. Hum Genet. 1996. PMID: 8931710

3

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.

Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP. Verrips A, et al. Among authors: wevers ra. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

4

Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.

Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: wevers ra. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841

5

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.

Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP. Verrips A, et al. Among authors: wevers ra. Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908. Brain. 2000. PMID: 10775536

6

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

Guyant-Maréchal L, Verrips A, Girard C, Wevers RA, Zijlstra F, Sistermans E, Vera P, Campion D, Hannequin D. Guyant-Maréchal L, et al. Among authors: wevers ra. Am J Med Genet A. 2005 Dec 1;139A(2):114-7. doi: 10.1002/ajmg.a.30797. Am J Med Genet A. 2005. PMID: 16278884

7

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA. Engelke UF, et al. Among authors: wevers ra. NMR Biomed. 2006 Apr;19(2):271-8. doi: 10.1002/nbm.1018. NMR Biomed. 2006. PMID: 16541463

8

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

Koene S, Kluijtmans LAJ, Wevers R, Mock D, Pasch M, Morava E. Koene S, et al. Clin Dysmorphol. 2008 Jul;17(3):195-198. doi: 10.1097/MCD.0b013e3282fe99c4. Clin Dysmorphol. 2008. PMID: 18541968 No abstract available.

9

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, Wevers RA. Engelke UF, et al. Among authors: wevers ra. NMR Biomed. 2009 Jun;22(5):538-44. doi: 10.1002/nbm.1367. NMR Biomed. 2009. PMID: 19288536

10

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA. Morava E, et al. Among authors: wevers ra. Mitochondrion. 2009 Nov;9(6):438-42. doi: 10.1016/j.mito.2009.08.003. Epub 2009 Aug 8. Mitochondrion. 2009. PMID: 19666145

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