Gabreëls FJ - Search Results

1

Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis.

Verrips A, van Engelen BG, Wevers RA, van Geel BM, Cruysberg JR, van den Heuvel LP, Keyser A, Gabreëls FJ. Verrips A, et al. Among authors: gabreels fj. Arch Neurol. 2000 Apr;57(4):520-4. doi: 10.1001/archneur.57.4.520. Arch Neurol. 2000. PMID: 10768627 Review.

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: gabreels fj. 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: gabreels fj. Hum Genet. 1997 Aug;100(2):284-6. doi: 10.1007/s004390050506. Hum Genet. 1997. PMID: 9254865

4

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

Verrips A, Wevers RA, Van Engelen BG, Keyser A, Wolthers BG, Barkhof F, Stalenhoef A, De Graaf R, Janssen-Zijlstra F, Van Spreeken A, Gabreëls FJ. Verrips A, et al. Among authors: gabreels fj. Metabolism. 1999 Feb;48(2):233-8. doi: 10.1016/s0026-0495(99)90040-9. Metabolism. 1999. PMID: 10024088 Clinical Trial.

5

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: gabreels fj. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841

6

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: gabreels fj. Brain. 2000 May;123 ( Pt 5):908-19. doi: 10.1093/brain/123.5.908. Brain. 2000. PMID: 10775536

7

Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.

Verrips A, van Engelen BG, ter Laak H, Gabreëls-Festen A, Janssen A, Zwarts M, Wevers RA, Gabreëls FJ. Verrips A, et al. Among authors: gabreels festen a, gabreels fj. Neuromuscul Disord. 2000 Aug;10(6):407-14. doi: 10.1016/s0960-8966(00)00112-7. Neuromuscul Disord. 2000. PMID: 10899446 Clinical Trial.

8

Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.

Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, Keyser A, Wevers RA, Valk J. Barkhof F, et al. Among authors: gabreels fj. Radiology. 2000 Dec;217(3):869-76. doi: 10.1148/radiology.217.3.r00dc03869. Radiology. 2000. PMID: 11110956

9

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

Hiel JA, van Engelen BG, Weemaes CM, Broeks A, Verrips A, ter Laak H, Vingerhoets HM, van den Heuvel LP, Lammens M, Gabreëls FJ, Last JI, Taylor AM. Hiel JA, et al. Among authors: gabreels fj. Neurology. 2006 Jul 25;67(2):346-9. doi: 10.1212/01.wnl.0000224878.22821.23. Neurology. 2006. PMID: 16864838

10

Familial adult-onset muscular dystrophy with leukoencephalopathy.

van Engelen BG, Leyten QH, Bernsen PL, Gabreëls FJ, Barkhof F, Joosten EM, Hamel BC, ter Laak HJ, Ruijs MB, Cruysberg JR, et al. van Engelen BG, et al. Among authors: gabreels fj. Ann Neurol. 1992 Oct;32(4):577-80. doi: 10.1002/ana.410320415. Ann Neurol. 1992. PMID: 1456743

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