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  Letzte Aktualisierung
17. November 2017
Arbeitsgruppe Stöhr - Publikationen (2010 - 2015)
2015  :  2014  :  2013  :  2012  :  2011  :  2010

2015

2014
Gliem M, Holz FG, Stöhr H, Weber BH, Charbel Issa P.
X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
Retina. 2014 Dec;34(12):2472-8. doi: 10.1097/IAE.0000000000000243.
Karlstetter M, Sorusch N, Caramoy A, Dannhausen K, Aslanidis A, Fauser S, Boesl MR, Nagel-Wolfrum K, Tamm ER, Jägle H, Stöhr H, Wolfrum U, Langmann T.
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
Hum Mol Genet. 2014 May 15. pii: ddu242. [Epub ahead of print]
Zach F, Stöhr H.
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa.
Adv Exp Med Biol. 2014;801:185-90. doi: 10.1007/978-1-4614-3209-8_24

2013
Fung AT1, Stöhr H, Weber BH, Holz FG, Yannuzzi LA.
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation.
Retin Cases Brief Rep. 2013 Winter;7(1):71-4. doi: 10.1097/ICB.0b013e318267101e.

2012
Zach F, Grassmann F, Langmann T, Sorusch N, Wolfrum U, Stöhr H.
The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association.
Hum Mol Genet. 2012 Nov 1;21(21):4573-86. doi: 10.1093/hmg/dds268.
Stöhr H, Anand-Apte B.
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy.
Adv Exp Med Biol. 2012;723:261-7. doi: 10.1007/978-1-4614-0631-0_34.

2011
Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.
The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
Hum Mol Genet. 2011 Mar 15;20(6):1132-42.

2010
Milenkovic VM, Brockmann M, Stöhr H, Weber BH, Strauss O.
Evolution and functional divergence of the anoctamin family of membrane proteins.
BMC Evol Biol. 2010 Oct 21;10:319.
Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C.
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
Am J Hum Genet. 2010 Sep 10;87(3):376-81.