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Page 1
PNPT1 mutations may cause Aicardi-Goutières-Syndrome.
Bamborschke D, Kreutzer M, Koy A, Koerber F, Lucas N, Huenseler C, Herkenrath P, Lee-Kirsch MA, Cirak S. Bamborschke D, et al. Brain Dev. 2021 Feb;43(2):320-324. doi: 10.1016/j.braindev.2020.10.005. Epub 2020 Nov 4. Brain Dev. 2021. PMID: 33158637
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S. Bayram N, et al. Among authors: bamborschke d. Eur J Ophthalmol. 2022 May;32(3):NP92-NP97. doi: 10.1177/11206721211021291. Epub 2021 Jun 2. Eur J Ophthalmol. 2022. PMID: 34075802
The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
Fazeli W, Bamborschke D, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, Hahn A, Weik A, Kolzter K, Shafiee S, Jin SC, Körber F, Lee-Kirsch MA, Darvish H, Cirak S, Kruer MC, Koy A. Fazeli W, et al. Among authors: bamborschke d. Eur J Paediatr Neurol. 2022 Jan;36:7-13. doi: 10.1016/j.ejpn.2021.10.011. Epub 2021 Oct 30. Eur J Paediatr Neurol. 2022. PMID: 34773825 Free PMC article. Review.
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Büscher AK, Beck BB, Melk A, Hoefele J, Kranz B, Bamborschke D, Baig S, Lange-Sperandio B, Jungraithmayr T, Weber LT, Kemper MJ, Tönshoff B, Hoyer PF, Konrad M, Weber S; German Pediatric Nephrology Association (GPN). Büscher AK, et al. Among authors: bamborschke d. Clin J Am Soc Nephrol. 2016 Feb 5;11(2):245-53. doi: 10.2215/CJN.07370715. Epub 2015 Dec 14. Clin J Am Soc Nephrol. 2016. PMID: 26668027 Free PMC article.
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. Among authors: bamborschke d. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406