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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: willemsen ma. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk-van Andel JF, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA. Willemsen MA, et al. Brain. 2010 Jun;133(Pt 6):1810-22. doi: 10.1093/brain/awq087. Epub 2010 Apr 29. Brain. 2010. PMID: 20430833 Free article.
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ. Morava E, et al. Among authors: willemsen ma. Brain. 2010 Nov;133(11):3210-20. doi: 10.1093/brain/awq261. Epub 2010 Sep 17. Brain. 2010. PMID: 20852264 Free PMC article.
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Morava E, et al. Among authors: willemsen ma. J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98. doi: 10.1210/jc.2010-1539. Epub 2010 Oct 13. J Clin Endocrinol Metab. 2011. PMID: 20943778 Free PMC article.
Homozygosity mapping in outbred families with mental retardation.
Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB. Schuurs-Hoeijmakers JH, et al. Among authors: willemsen ma. Eur J Hum Genet. 2011 May;19(5):597-601. doi: 10.1038/ejhg.2010.167. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248743 Free PMC article.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Roscioli T, et al. Among authors: willemsen ma. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253. Nat Genet. 2012. PMID: 22522421 Free PMC article.
255 results