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Page 1
Generation of a novel rodent model for DYT1 dystonia.
Grundmann K, Glöckle N, Martella G, Sciamanna G, Hauser TK, Yu L, Castaneda S, Pichler B, Fehrenbacher B, Schaller M, Nuscher B, Haass C, Hettich J, Yue Z, Nguyen HP, Pisani A, Riess O, Ott T. Grundmann K, et al. Among authors: glockle n. Neurobiol Dis. 2012 Jul;47(1):61-74. doi: 10.1016/j.nbd.2012.03.024. Epub 2012 Mar 26. Neurobiol Dis. 2012. PMID: 22472189
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
Walter M, Bonin M, Pullman RS, Valente EM, Loi M, Gambarin M, Raymond D, Tinazzi M, Kamm C, Glöckle N, Poths S, Gasser T, Bressman SB, Klein C, Ozelius LJ, Riess O, Grundmann K. Walter M, et al. Among authors: glockle n. Neurobiol Dis. 2010 May;38(2):192-200. doi: 10.1016/j.nbd.2009.12.019. Epub 2010 Jan 4. Neurobiol Dis. 2010. PMID: 20053375
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: glockle n. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Weisschuh N, et al. Among authors: glockle n. PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016. PLoS One. 2016. PMID: 26766544 Free PMC article.
A new mutation in enhanced S-cone syndrome.
Termühlen J, Alex AF, Glöckle N, Kellner U, Fiedler B, Eter N, Uhlig CE. Termühlen J, et al. Among authors: glockle n. Acta Ophthalmol. 2018 Jun;96(4):e539-e540. doi: 10.1111/aos.13205. Epub 2016 Aug 29. Acta Ophthalmol. 2018. PMID: 27573156 Free article. No abstract available.