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Genetic variation of αENaC influences lung diffusion during exercise in humans.
Baker SE, Wheatley CM, Cassuto NA, Foxx-Lupo WT, Sprissler R, Snyder EM. Baker SE, et al. Among authors: sprissler r. Respir Physiol Neurobiol. 2011 Dec 15;179(2-3):212-8. doi: 10.1016/j.resp.2011.08.007. Epub 2011 Aug 26. Respir Physiol Neurobiol. 2011. PMID: 21893217 Free PMC article.
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF. Veeramah KR, et al. Among authors: sprissler r. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3. Epilepsia. 2013. PMID: 23647072 Free PMC article.
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S. Hammer MF, et al. Among authors: sprissler r. PLoS One. 2017 Jul 7;12(7):e0180485. doi: 10.1371/journal.pone.0180485. eCollection 2017. PLoS One. 2017. PMID: 28686619 Free PMC article.
35 results