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Page 1
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE. Ansar M, et al. Among authors: kornau hc. Am J Hum Genet. 2019 Nov 7;105(5):907-920. doi: 10.1016/j.ajhg.2019.09.013. Epub 2019 Oct 10. Am J Hum Genet. 2019. PMID: 31607425 Free PMC article.
Human gestational N-methyl-d-aspartate receptor autoantibodies impair neonatal murine brain function.
Jurek B, Chayka M, Kreye J, Lang K, Kraus L, Fidzinski P, Kornau HC, Dao LM, Wenke NK, Long M, Rivalan M, Winter Y, Leubner J, Herken J, Mayer S, Mueller S, Boehm-Sturm P, Dirnagl U, Schmitz D, Kölch M, Prüss H. Jurek B, et al. Among authors: kornau hc. Ann Neurol. 2019 Nov;86(5):656-670. doi: 10.1002/ana.25552. Epub 2019 Sep 18. Ann Neurol. 2019. PMID: 31325344
Role of heteromer formation in GABAB receptor function.
Kuner R, Köhr G, Grünewald S, Eisenhardt G, Bach A, Kornau HC. Kuner R, et al. Among authors: kornau hc. Science. 1999 Jan 1;283(5398):74-7. doi: 10.1126/science.283.5398.74. Science. 1999. PMID: 9872744
Encephalitis patient-derived monoclonal GABAA receptor antibodies cause epileptic seizures.
Kreye J, Wright SK, van Casteren A, Stöffler L, Machule ML, Reincke SM, Nikolaus M, van Hoof S, Sanchez-Sendin E, Homeyer MA, Cordero Gómez C, Kornau HC, Schmitz D, Kaindl AM, Boehm-Sturm P, Mueller S, Wilson MA, Upadhya MA, Dhangar DR, Greenhill S, Woodhall G, Turko P, Vida I, Garner CC, Wickel J, Geis C, Fukata Y, Fukata M, Prüss H. Kreye J, et al. Among authors: kornau hc. J Exp Med. 2021 Nov 1;218(11):e20210012. doi: 10.1084/jem.20210012. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546336 Free PMC article.
30 results