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Page 1
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B. Hosseinibarkooie S, et al. Among authors: janzen e. Am J Hum Genet. 2016 Sep 1;99(3):647-665. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4. Am J Hum Genet. 2016. PMID: 27499521 Free PMC article.
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: janzen e. Neurol Genet. 2018 Jan 19;4(1):e209. doi: 10.1212/NXG.0000000000000209. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29379881 Free PMC article.
PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice.
Janzen E, Wolff L, Mendoza-Ferreira N, Hupperich K, Delle Vedove A, Hosseinibarkooie S, Kye MJ, Wirth B. Janzen E, et al. Front Neurosci. 2019 Sep 19;13:993. doi: 10.3389/fnins.2019.00993. eCollection 2019. Front Neurosci. 2019. PMID: 31607845 Free PMC article.
Genetic heterogeneity in Pakistani microcephaly families.
Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Sajid Hussain M, et al. Among authors: janzen e. Clin Genet. 2013 May;83(5):446-51. doi: 10.1111/j.1399-0004.2012.01932.x. Epub 2012 Aug 7. Clin Genet. 2013. PMID: 22775483
Electrical spectroscopy of polaritonic nanoresonators.
Castilla S, Agarwal H, Vangelidis I, Bludov YV, Iranzo DA, Grabulosa A, Ceccanti M, Vasilevskiy MI, Kumar RK, Janzen E, Edgar JH, Watanabe K, Taniguchi T, Peres NMR, Lidorikis E, Koppens FHL. Castilla S, et al. Among authors: janzen e. Nat Commun. 2024 Oct 5;15(1):8635. doi: 10.1038/s41467-024-52838-w. Nat Commun. 2024. PMID: 39366966 Free PMC article.
277 results