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Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy.
Nagel-Wolfrum K, Fadl BR, Becker MM, Wunderlich KA, Schäfer J, Sturm D, Fritze J, Gür B, Kaplan L, Andreani T, Goldmann T, Brooks M, Starostik MR, Lokhande A, Apel M, Fath KR, Stingl K, Kohl S, DeAngelis MM, Schlötzer-Schrehardt U, Kim IK, Owen LA, Vetter JM, Pfeiffer N, Andrade-Navarro MA, Grosche A, Swaroop A, Wolfrum U. Nagel-Wolfrum K, et al. Hum Mol Genet. 2023 Jan 13;32(3):431-449. doi: 10.1093/hmg/ddac211. Hum Mol Genet. 2023. PMID: 35997788 Free PMC article.
RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease.
Andrade-Navarro MA, Mühlenberg K, Spruth EJ, Mah N, González-López A, Andreani T, Russ J, Huska MR, Muro EM, Fontaine JF, Amstislavskiy V, Soldatov A, Nietfeld W, Wanker EE, Priller J. Andrade-Navarro MA, et al. Front Neurol. 2020 Nov 27;11:573560. doi: 10.3389/fneur.2020.573560. eCollection 2020. Front Neurol. 2020. PMID: 33329316 Free PMC article.
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.
Zepeda-Mendoza CJ, Ibn-Salem J, Kammin T, Harris DJ, Rita D, Gripp KW, MacKenzie JJ, Gropman A, Graham B, Shaheen R, Alkuraya FS, Brasington CK, Spence EJ, Masser-Frye D, Bird LM, Spiegel E, Sparkes RL, Ordulu Z, Talkowski ME, Andrade-Navarro MA, Robinson PN, Morton CC. Zepeda-Mendoza CJ, et al. Am J Hum Genet. 2017 Aug 3;101(2):206-217. doi: 10.1016/j.ajhg.2017.06.011. Epub 2017 Jul 20. Am J Hum Genet. 2017. PMID: 28735859 Free PMC article.
223 results