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252 results
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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Hypoglycorrhachia: a simple clue, simply missed.
Willemsen MA, Verrips A, Verbeek MM, Voit T, Klepper J.
Willemsen MA, et al.
Ann Neurol. 2001 May;49(5):685-6.
Ann Neurol. 2001.
PMID: 11357965
No abstract available.
Item in Clipboard
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ.
Willemsen MA, et al.
Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426.
Brain. 2001.
PMID: 11408337
Review.
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Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA.
Klepper J, et al. Among authors: willemsen ma.
Neuropediatrics. 2005 Oct;36(5):302-8. doi: 10.1055/s-2005-872843.
Neuropediatrics. 2005.
PMID: 16217704
Clinical Trial.
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High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.
Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR.
Morava E, et al. Among authors: willemsen ma.
Eur J Ophthalmol. 2006 Jan-Feb;16(1):190-4. doi: 10.1177/112067210601600134.
Eur J Ophthalmol. 2006.
PMID: 16496270
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Chronic herpes simplex virus encephalitis in childhood.
Leen WG, Weemaes CM, Verbeek MM, Willemsen MA, Rotteveel JJ.
Leen WG, et al. Among authors: willemsen ma.
Pediatr Neurol. 2006 Jul;35(1):57-61. doi: 10.1016/j.pediatrneurol.2005.12.015.
Pediatr Neurol. 2006.
PMID: 16814088
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An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C.
Salomons GS, et al. Among authors: willemsen ma.
Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206.
Ann Neurol. 2007.
PMID: 17721876
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Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome.
Leen WG, Weemaes CM, Verbeek MM, Willemsen MA, Rotteveel JJ.
Leen WG, et al. Among authors: willemsen ma.
Pediatr Neurol. 2008 Sep;39(3):213-7. doi: 10.1016/j.pediatrneurol.2008.05.015.
Pediatr Neurol. 2008.
PMID: 18725071
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Tyrosine hydroxylase deficiency with severe clinical course.
Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R.
Zafeiriou DI, et al. Among authors: willemsen ma.
Mol Genet Metab. 2009 May;97(1):18-20. doi: 10.1016/j.ymgme.2009.02.001. Epub 2009 Feb 10.
Mol Genet Metab. 2009.
PMID: 19282209
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type.
Morava E, Wevers RA, Willemsen MA, Lefeber D.
Morava E, et al. Among authors: willemsen ma.
Neurology. 2009 Oct 6;73(14):1164; author reply 1164-5. doi: 10.1212/WNL.0b013e3181b26daf.
Neurology. 2009.
PMID: 19805737
No abstract available.
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