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Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: wicher k. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: wicher k. J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. J Appl Genet. 2015. PMID: 25820994 Free PMC article. Review.
Correction to: Current research into brain barriers and the delivery of therapeutics for neurological diseases: a report on CNS barrier congress London, UK, 2017.
Greenwood J, Hammarlund-Udenaes M, Jones HC, Stitt AW, Vandenbroucke RE, Romero IA, Campbell M, Fricker G, Brodin B, Manninga H, Gaillard PJ, Schwaninger M, Webster C, Wicher KB, Khrestchatisky M. Greenwood J, et al. Among authors: wicher kb. Fluids Barriers CNS. 2018 Jan 12;15(1):3. doi: 10.1186/s12987-017-0086-x. Fluids Barriers CNS. 2018. PMID: 29329565 Free PMC article.
Current research into brain barriers and the delivery of therapeutics for neurological diseases: a report on CNS barrier congress London, UK, 2017.
Greenwood J, Hammarlund-Udenaes M, Jones HC, Stitt AW, Vandenbroucke RE, Romero IA, Campbell M, Fricker G, Brodin B, Manninga H, Gaillard PJ, Schwaninger M, Webster C, Wicher KB, Khrestchatisky M. Greenwood J, et al. Among authors: wicher kb. Fluids Barriers CNS. 2017 Nov 7;14(1):31. doi: 10.1186/s12987-017-0079-9. Fluids Barriers CNS. 2017. PMID: 29110676 Free PMC article.
Neuronal Roles of the Bicaudal D Family of Motor Adaptors.
Budzinska M, Wicher KB, Terenzio M. Budzinska M, et al. Among authors: wicher kb. Vitam Horm. 2017;104:133-152. doi: 10.1016/bs.vh.2016.11.005. Epub 2016 Dec 29. Vitam Horm. 2017. PMID: 28215293 Review.
144 results