Wegener E - Search Results

1

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.

Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P. Kettwig M, et al. Among authors: wegener e. BMC Neurol. 2016 May 21;16:74. doi: 10.1186/s12883-016-0602-7. BMC Neurol. 2016. PMID: 27206732 Free PMC article. Review.

2

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model.

Brendel C, Belakhov V, Werner H, Wegener E, Gärtner J, Nudelman I, Baasov T, Huppke P. Brendel C, et al. Among authors: wegener e. J Mol Med (Berl). 2011 Apr;89(4):389-98. doi: 10.1007/s00109-010-0704-4. Epub 2010 Dec 1. J Mol Med (Berl). 2011. PMID: 21120444 Free PMC article.

3

Tectonic gene mutations in patients with Joubert syndrome.

Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C. Huppke P, et al. Among authors: wegener e. Eur J Hum Genet. 2015 May;23(5):616-20. doi: 10.1038/ejhg.2014.160. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118024 Free PMC article. Review.

4

Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.

Wegener E, Brendel C, Fischer A, Hülsmann S, Gärtner J, Huppke P. Wegener E, et al. PLoS One. 2014 Dec 26;9(12):e115444. doi: 10.1371/journal.pone.0115444. eCollection 2014. PLoS One. 2014. PMID: 25541993 Free PMC article.

5

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Huppke P, et al. Among authors: wegener e. Exp Neurol. 2019 Oct;320:112958. doi: 10.1016/j.expneurol.2019.112958. Epub 2019 May 24. Exp Neurol. 2019. PMID: 31132363

6

Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.

Wong KM, Wegener E, Baradaran-Heravi A, Huppke B, Gärtner J, Huppke P. Wong KM, et al. Among authors: wegener e. Int J Mol Sci. 2023 Jul 19;24(14):11665. doi: 10.3390/ijms241411665. Int J Mol Sci. 2023. PMID: 37511424 Free PMC article.

7

Dynamic Copper Site Redispersion through Atom Trapping in Zeolite Defects.

Purdy SC, Collinge G, Zhang J, Borate SN, Unocic KA, Wu Q, Wegener EC, Kropf AJ, Samad NR, Yuk SF, Zhang D, Habas S, Krause TR, Harris JW, Lee MS, Glezakou VA, Rousseau R, Sutton AD, Li Z. Purdy SC, et al. Among authors: wegener ec. J Am Chem Soc. 2024 Mar 27;146(12):8280-8297. doi: 10.1021/jacs.3c13302. Epub 2024 Mar 11. J Am Chem Soc. 2024. PMID: 38467029

8

Prostate Virtual High-dose-rate Brachytherapy Boost: 5-Year Results from the PROMETHEUS Prospective Multicentre Trial.

Wegener E, Sidhom M, Pryor D, Bucci J, Yeoh K, Richardson M, Greer P, Wilton L, Gallagher S, Schmidt L, Arumugam S, Keats S, Brown S, Glyde A, Martin JM. Wegener E, et al. Eur Urol Oncol. 2024 Jan 31:S2588-9311(24)00033-6. doi: 10.1016/j.euo.2024.01.008. Online ahead of print. Eur Urol Oncol. 2024. PMID: 38302321 Free article.

9

In Vitro Evaluation of the Adsorption Efficacy of Biochar Materials on Aflatoxin B₁, Ochratoxin A, and Zearalenone.

Appell M, Wegener EC, Sharma BK, Eller FJ, Evans KO, Compton DL. Appell M, et al. Among authors: wegener ec. Animals (Basel). 2023 Oct 25;13(21):3311. doi: 10.3390/ani13213311. Animals (Basel). 2023. PMID: 37958067 Free PMC article.

10

Leptomeningeal neuraxis relapse in glioblastoma is an uncommon but not rare event associated with poor outcome.

Wegener E, Horsley P, Wheeler H, Jayamanne D, Kastelan M, Guo L, Brown C, Back M. Wegener E, et al. BMC Neurol. 2023 Sep 15;23(1):328. doi: 10.1186/s12883-023-03378-1. BMC Neurol. 2023. PMID: 37715122 Free PMC article.

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