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Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis.
Riessland M, Kaczmarek A, Schneider S, Swoboda KJ, Löhr H, Bradler C, Grysko V, Dimitriadi M, Hosseinibarkooie S, Torres-Benito L, Peters M, Upadhyay A, Biglari N, Kröber S, Hölker I, Garbes L, Gilissen C, Hoischen A, Nürnberg G, Nürnberg P, Walter M, Rigo F, Bennett CF, Kye MJ, Hart AC, Hammerschmidt M, Kloppenburg P, Wirth B. Riessland M, et al. Among authors: schneider s. Am J Hum Genet. 2017 Feb 2;100(2):297-315. doi: 10.1016/j.ajhg.2017.01.005. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132687 Free PMC article.
Investigational therapies for the treatment of spinal muscular atrophy.
Kaczmarek A, Schneider S, Wirth B, Riessland M. Kaczmarek A, et al. Among authors: schneider s. Expert Opin Investig Drugs. 2015;24(7):867-81. doi: 10.1517/13543784.2015.1038341. Epub 2015 Apr 24. Expert Opin Investig Drugs. 2015. PMID: 25911060 Review.
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.
Mendoza-Ferreira N, Coutelier M, Janzen E, Hosseinibarkooie S, Löhr H, Schneider S, Milbradt J, Karakaya M, Riessland M, Pichlo C, Torres-Benito L, Singleton A, Zuchner S, Brice A, Durr A, Hammerschmidt M, Stevanin G, Wirth B. Mendoza-Ferreira N, et al. Among authors: schneider s. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29379881 Free PMC article.
Intraprocedural 3D-vena contracta area predicts survival after transcatheter edge-to-edge repair: results from MITRA-PRO registry.
Rottländer D, Hausleiter J, Schmitz T, Bufe A, Seyfarth M, von Bardeleben RS, Beucher H, Ouarrak T, Schneider S, Boekstegers P; MITRA-PRO investigators. Rottländer D, et al. Among authors: schneider s. Clin Res Cardiol. 2024 Dec 9. doi: 10.1007/s00392-024-02580-6. Online ahead of print. Clin Res Cardiol. 2024. PMID: 39652118
4,767 results