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Male patients affected by mosaic PCDH19 mutations: five new cases.
de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, Brouwer OF, Mancini GMS, Newman HA, Vos YJ, Helbig KL, Peeters-Scholte C, Kriek M, Knoers NV, Lindhout D, Koeleman BPC, van Kempen MJA, Brilstra EH. de Lange IM, et al. Neurogenetics. 2017 Jul;18(3):147-153. doi: 10.1007/s10048-017-0517-5. Epub 2017 Jul 1. Neurogenetics. 2017. PMID: 28669061 Free PMC article.
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA. Menko FH, et al. Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510548 Free article.
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.
Endovascular treatment of patients with stroke caused by anterior cerebral artery occlusions.
Vos EM, Kappelhof M, den Hartog SJ, Coutinho JM, Emmer BJ, Roozenbeek B, van Zwam WH, van Oostenbrugge RJ, van der Worp HB, Uyttenboogaart M, van Es ACGM, Majoie CBLM, Dippel DWJ, Peeters-Scholte CMPCD, van den Wijngaard IR; MR CLEAN Registry Investigators. Vos EM, et al. Among authors: peeters scholte cmpcd. Acta Neurol Belg. 2024 Apr;124(2):621-630. doi: 10.1007/s13760-023-02395-8. Epub 2023 Oct 12. Acta Neurol Belg. 2024. PMID: 37828269 Free PMC article.
Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.
Pijpers JA, Au PYB, Weeke LC, Vein AA, Smit LS, Vilan A, Jacobs E, de Vries LS, Steggerda SJ, Cilio MR, Carapancea E, Cornet MC, Appendino JP, Peeters-Scholte CMPCD. Pijpers JA, et al. Among authors: peeters scholte cmpcd. Seizure. 2023 Aug;110:212-219. doi: 10.1016/j.seizure.2023.06.016. Epub 2023 Jun 22. Seizure. 2023. PMID: 37429183 Free article.
67 results