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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W. Suls A, et al. Among authors: van paesschen w, van dyck t, van esch h, van laere k. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.
D'Hulst C, Heulens I, Van der Aa N, Goffin K, Koole M, Porke K, Van De Velde M, Rooms L, Van Paesschen W, Van Esch H, Van Laere K, Kooy RF. D'Hulst C, et al. Among authors: van der aa n, van paesschen w, van de velde m, van esch h, van laere k. PLoS One. 2015 Jul 29;10(7):e0131486. doi: 10.1371/journal.pone.0131486. eCollection 2015. PLoS One. 2015. PMID: 26222316 Free PMC article. Clinical Trial.
Use of Multimodal Imaging and Clinical Biomarkers in Presymptomatic Carriers of C9orf72 Repeat Expansion.
De Vocht J, Blommaert J, Devrome M, Radwan A, Van Weehaeghe D, De Schaepdryver M, Ceccarini J, Rezaei A, Schramm G, van Aalst J, Chiò A, Pagani M, Stam D, Van Esch H, Lamaire N, Verhaegen M, Mertens N, Poesen K, van den Berg LH, van Es MA, Vandenberghe R, Vandenbulcke M, Van den Stock J, Koole M, Dupont P, Van Laere K, Van Damme P. De Vocht J, et al. Among authors: van es ma, van weehaeghe d, van den stock j, van esch h, van laere k, van den berg lh, van damme p, van aalst j. JAMA Neurol. 2020 Aug 1;77(8):1008-1017. doi: 10.1001/jamaneurol.2020.1087. JAMA Neurol. 2020. PMID: 32421156 Free PMC article.
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F, Devriendt K, Davis EE, Van Esch H, Vermeesch JR. Cristofoli F, et al. Among authors: van esch h. Hum Mutat. 2018 Jul;39(7):993-1001. doi: 10.1002/humu.23536. Epub 2018 May 11. Hum Mutat. 2018. PMID: 29691940 Free PMC article.
Novel PORCN mutations in focal dermal hypoplasia.
Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S. Froyen G, et al. Among authors: van esch h. Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23. Clin Genet. 2009. PMID: 19863546
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B. Vergult S, et al. Among authors: van esch h. Genet Med. 2013 Mar;15(3):195-202. doi: 10.1038/gim.2012.120. Epub 2012 Sep 20. Genet Med. 2013. PMID: 22995989 Free article.
217 results