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A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.
Cephalalgia. 2015.
PMID: 24824604
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.
Heinzen EL, et al.
Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
Nat Genet. 2012.
PMID: 22842232
Free PMC article.
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Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
Jansen AM, Geilenkirchen MA, van Wezel T, Jagmohan-Changur SC, Ruano D, van der Klift HM, van den Akker BE, Laros JF, van Galen M, Wagner A, Letteboer TG, Gómez-García EB, Tops CM, Vasen HF, Devilee P, Hes FJ, Morreau H, Wijnen JT.
Jansen AM, et al. Among authors: geilenkirchen ma.
PLoS One. 2016 Jun 14;11(6):e0157381. doi: 10.1371/journal.pone.0157381. eCollection 2016.
PLoS One. 2016.
PMID: 27300758
Free PMC article.
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Differential expression and function of human IL-12Rβ2 polymorphic variants.
de Paus RA, Geilenkirchen MA, van Riet S, van Dissel JT, van de Vosse E.
de Paus RA, et al. Among authors: geilenkirchen ma.
Mol Immunol. 2013 Dec;56(4):380-9. doi: 10.1016/j.molimm.2013.07.002. Epub 2013 Aug 1.
Mol Immunol. 2013.
PMID: 23911393
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