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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: van bogaert p, van engelen bg. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Paediatric cerebrotendinous xanthomatosis.
Wevers RA, Cruysberg JR, Van Heijst AF, Janssen-Zijlstra FS, Renier WO, Van Engelen BG, Tolboom JJ. Wevers RA, et al. Among authors: van heijst af, van engelen bg. J Inherit Metab Dis. 1992;15(3):374-6. doi: 10.1007/BF02435980. J Inherit Metab Dis. 1992. PMID: 1405473 No abstract available.
Ocular and systemic manifestations of cerebrotendinous xanthomatosis.
Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ. Cruysberg JR, et al. Among authors: van engelen bg, van spreeken a. Am J Ophthalmol. 1995 Nov;120(5):597-604. doi: 10.1016/s0002-9394(14)72206-8. Am J Ophthalmol. 1995. PMID: 7485361
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC. Gabreëls-Festen AA, et al. Among authors: van beersum s, van engelen bg, van broeckhoven c. Neurology. 1996 Sep;47(3):761-5. doi: 10.1212/wnl.47.3.761. Neurology. 1996. PMID: 8797476
Genetic characteristics of myoadenylate deaminase deficiency.
Verzijl HT, van Engelen BG, Luyten JA, Steenbergen GC, van den Heuvel LP, ter Laak HJ, Padberg GW, Wevers RA. Verzijl HT, et al. Among authors: van engelen bg, van den heuvel lp. Ann Neurol. 1998 Jul;44(1):140-3. doi: 10.1002/ana.410440124. Ann Neurol. 1998. PMID: 9667605 Clinical Trial.
Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Lenssen PP, Gabreëls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabreëls FJ, Mariman EC. Lenssen PP, et al. Among authors: van beersum se, van wensen pj, van engelen bg. Brain. 1998 Aug;121 ( Pt 8):1451-8. doi: 10.1093/brain/121.8.1451. Brain. 1998. PMID: 9712007
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: van engelen bg, van den heuvel lp. Brain. 1999 Aug;122 ( Pt 8):1589-95. doi: 10.1093/brain/122.8.1589. Brain. 1999. PMID: 10430841
552 results