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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder.
Huppke P, Weissbach S, Church JA, Schnur R, Krusen M, Dreha-Kulaczewski S, Kühn-Velten WN, Wolf A, Huppke B, Millan F, Begtrup A, Almusafri F, Thiele H, Altmüller J, Nürnberg P, Müller M, Gärtner J. Huppke P, et al. Among authors: huppke b. Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7. Nat Commun. 2017. PMID: 29018201 Free PMC article.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
Visually self-induced seizures sensitive to round objects.
Brockmann K, Huppke P, Karenfort M, Gärtner J, Höger C. Brockmann K, et al. Among authors: huppke p. Epilepsia. 2005 May;46(5):786-9. doi: 10.1111/j.1528-1167.2005.54004.x. Epilepsia. 2005. PMID: 15857450 Free article.
Molecular diagnosis of Rett syndrome.
Huppke P, Gärtner J. Huppke P, et al. J Child Neurol. 2005 Sep;20(9):732-6. doi: 10.1177/08830738050200090601. J Child Neurol. 2005. PMID: 16225827 Review.
Very mild cases of Rett syndrome with skewed X inactivation.
Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J. Huppke P, et al. J Med Genet. 2006 Oct;43(10):814-6. doi: 10.1136/jmg.2006.042077. Epub 2006 May 11. J Med Genet. 2006. PMID: 16690727 Free PMC article.
Treatment of epilepsy in Rett syndrome.
Huppke P, Köhler K, Brockmann K, Stettner GM, Gärtner J. Huppke P, et al. 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. Among authors: huppke p. 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
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