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CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.
Syrbe S, Stettner GM, Bally J, Borggraefe I, Bien CI, Ferfoglia RI, Huppke P, Kern J, Polster T, Probst-Müller E, Schmid S, Steinfeld R, Strozzi S, Weichselbaum A, Weitz M, Ziegler A, Wandinger KP, Leypoldt F, Bien CG. Syrbe S, et al. Among authors: stettner gm. Neurology. 2020 Jun 2;94(22):e2290-e2301. doi: 10.1212/WNL.0000000000009523. Epub 2020 May 18. Neurology. 2020. PMID: 32424051
Treatment of epilepsy in Rett syndrome.
Huppke P, Köhler K, Brockmann K, Stettner GM, Gärtner J. Huppke P, et al. Among authors: stettner gm. Eur J Paediatr Neurol. 2007 Jan;11(1):10-6. doi: 10.1016/j.ejpn.2006.09.003. Epub 2006 Dec 18. Eur J Paediatr Neurol. 2007. PMID: 17178248
Spontaneous central apneas occur in the C57BL/6J mouse strain.
Stettner GM, Zanella S, Huppke P, Gärtner J, Hilaire G, Dutschmann M. Stettner GM, et al. Respir Physiol Neurobiol. 2008 Jan 1;160(1):21-7. doi: 10.1016/j.resp.2007.07.011. Epub 2007 Aug 6. Respir Physiol Neurobiol. 2008. PMID: 17869191
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Wambach JA, et al. Among authors: stettner gm. Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17. Hum Mutat. 2017. PMID: 28726266 Free PMC article.
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C, Maroofian R, Nguyen TTM, Karimiani EG, Kirmani S, Akbar F, Ibrahim S, Afroze B, Doosti M, Ashrafzadeh F, Babaei M, Efthymiou S, Christoforou M, Sultan T, Ladda RL, McLaughlin HM, Truty R, Mahida S, Cohen JS, Baranano K, Ismail FY, Patel MS, Lehman A, Edmondson AC, Nagy A, Walker MA, Mercimek-Andrews S, Maki Y, Sachdev R, Macintosh R, Palmer EE, Mancini GMS, Barakat TS, Steinfeld R, Rüsch CT, Stettner GM, Wagner M, Wortmann SB, Kini U, Brady AF, Stals KL, Ismayilova N, Ellard S, Bernardo D, Nugent K, McLean SD, Antonarakis SE, Houlden H, Kinoshita T, Campeau PM, Murakami Y. Tremblay-Laganière C, et al. Among authors: stettner gm. Genet Med. 2021 Oct;23(10):1873-1881. doi: 10.1038/s41436-021-01215-9. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113002 Free PMC article.
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