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Items: 13

1.

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Willemsen MA, Vissers LE, Verbeek MM, van Bon BW, Geuer S, Gilissen C, Klepper J, Kwint MP, Leen WG, Pennings M, Wevers RA, Veltman JA, Kamsteeg EJ.

Eur J Hum Genet. 2017 Jun;25(6):771-774. doi: 10.1038/ejhg.2017.45. Epub 2017 Apr 5.

2.

Hourly analysis of cerebrospinal fluid glucose shows large diurnal fluctuations.

Verbeek MM, Leen WG, Willemsen MA, Slats D, Claassen JA.

J Cereb Blood Flow Metab. 2016 May;36(5):899-902. doi: 10.1177/0271678X16637612. Epub 2016 Mar 4.

3.

Lactate and its many faces.

Taher M, Leen WG, Wevers RA, Willemsen MA.

Eur J Paediatr Neurol. 2016 Jan;20(1):3-10. doi: 10.1016/j.ejpn.2015.09.008. Epub 2015 Oct 9. Review.

PMID:
26481417
4.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Weller CM, Leen WG, Neville BG, Duncan JS, de Vries B, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, van den Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM.

Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.

PMID:
24824604
5.

GLUT1 deficiency syndrome into adulthood: a follow-up study.

Leen WG, Taher M, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

J Neurol. 2014 Mar;261(3):589-99. doi: 10.1007/s00415-014-7240-z. Epub 2014 Jan 12. Review.

PMID:
24413642
6.

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Leen WG, de Wit CJ, Wevers RA, van Engelen BG, Kamsteeg EJ, Klepper J, Verbeek MM, Willemsen MA.

Neurology. 2013 Dec 10;81(24):e178-81. doi: 10.1212/01.wnl.0000437294.20817.99. Review.

PMID:
24323444
7.

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

Leen WG, Wevers RA, Kamsteeg EJ, Scheffer H, Verbeek MM, Willemsen MA.

JAMA Neurol. 2013 Nov;70(11):1440-4. doi: 10.1001/jamaneurol.2013.3090. Review.

PMID:
23999624
8.

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

Leen WG, Mewasingh L, Verbeek MM, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA.

Mov Disord. 2013 Sep;28(10):1439-42. doi: 10.1002/mds.25515. Epub 2013 Jun 25.

PMID:
23801573
9.

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.

Leen WG, Willemsen MA, Wevers RA, Verbeek MM.

PLoS One. 2012;7(8):e42745. doi: 10.1371/journal.pone.0042745. Epub 2012 Aug 6.

10.

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.

Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.

PMID:
20129935
11.

Rituximab and intravenous immunoglobulins for relapsing postinfectious opsoclonus-myoclonus syndrome.

Leen WG, Weemaes CM, Verbeek MM, Willemsen MA, Rotteveel JJ.

Pediatr Neurol. 2008 Sep;39(3):213-7. doi: 10.1016/j.pediatrneurol.2008.05.015.

PMID:
18725071
12.

Ptosis as a feature of late-onset glycogenosis type II.

Groen WB, Leen WG, Vos AM, Cruysberg JR, van Doorn PA, van Engelen BG.

Neurology. 2006 Dec 26;67(12):2261-2. No abstract available.

PMID:
17190962
13.

Chronic herpes simplex virus encephalitis in childhood.

Leen WG, Weemaes CM, Verbeek MM, Willemsen MA, Rotteveel JJ.

Pediatr Neurol. 2006 Jul;35(1):57-61.

PMID:
16814088

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