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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.
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.
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.
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
Tunable Phonon Polariton Hybridization in a van der Waals Hetero-Bicrystal.
Wehmeier L, Yu SJ, Chen X, Mayer RA, Xiong L, Yao H, Jiang Y, Hu J, Janzen E, Edgar JH, Zheng X, Heinz TF, Basov DN, Homes CC, Hu G, Carr GL, Liu M, Fan JA. Wehmeier L, et al. Among authors: janzen e. Adv Mater. 2024 Apr 24:e2401349. doi: 10.1002/adma.202401349. Online ahead of print. Adv Mater. 2024. PMID: 38657644
Factors Associated With Coronary Angiography Performed Within 6 Months of Randomization to the Conservative Strategy in the ISCHEMIA Trial.
Pracoń R, Spertus JA, Broderick S, Bangalore S, Rockhold FW, Ruzyllo W, Demchenko E, Nageh T, Grossman GB, Mavromatis K, Manjunath CN, Smanio PEP, Stone GW, Mancini GBJ, Boden WE, Newman JD, Reynolds HR, Hochman JS, Maron DJ; ISCHEMIA Research Group. Pracoń R, et al. Circ Cardiovasc Interv. 2024 Apr 17:e013435. doi: 10.1161/CIRCINTERVENTIONS.123.013435. Online ahead of print. Circ Cardiovasc Interv. 2024. PMID: 38629312
271 results