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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Li D, Yuan H, Ortiz-Gonzalez XR, Marsh ED, Tian L, McCormick EM, Kosobucki GJ, Chen W, Schulien AJ, Chiavacci R, Tankovic A, Naase C, Brueckner F, von Stülpnagel-Steinbeis C, Hu C, Kusumoto H, Hedrich UB, Elsen G, Hörtnagel K, Aizenman E, Lemke JR, Hakonarson H, Traynelis SF, Falk MJ. Li D, et al. Among authors: brueckner f. Am J Hum Genet. 2016 Oct 6;99(4):802-816. doi: 10.1016/j.ajhg.2016.07.013. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616483 Free PMC article.
Unusual variability of PRRT2 linked phenotypes within a family.
Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E. Brueckner F, et al. Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8. Eur J Paediatr Neurol. 2014. PMID: 24755245
Molecular mechanism of ligand recognition by membrane transport protein, Mhp1.
Simmons KJ, Jackson SM, Brueckner F, Patching SG, Beckstein O, Ivanova E, Geng T, Weyand S, Drew D, Lanigan J, Sharples DJ, Sansom MS, Iwata S, Fishwick CW, Johnson AP, Cameron AD, Henderson PJ. Simmons KJ, et al. Among authors: brueckner f. EMBO J. 2014 Aug 18;33(16):1831-44. doi: 10.15252/embj.201387557. Epub 2014 Jun 21. EMBO J. 2014. PMID: 24952894 Free PMC article.
Structure of β-adrenergic receptors.
Brueckner F, Piscitelli CL, Tsai CJ, Standfuss J, Deupi X, Schertler GF. Brueckner F, et al. Methods Enzymol. 2013;520:117-51. doi: 10.1016/B978-0-12-391861-1.00006-X. Methods Enzymol. 2013. PMID: 23332698
23 results