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Page 1
Orofacial Anomalies in Kindler Epidermolysis Bullosa.
Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C. Krämer S, et al. Among authors: klausegger a. JAMA Dermatol. 2024 May 1;160(5):544-549. doi: 10.1001/jamadermatol.2024.0065. JAMA Dermatol. 2024. PMID: 38506824
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status.
Klausegger A, Jeschko N, Grammer M, Cemper-Kiesslich J, Neuhuber F, Diem A, Breitenbach-Koller H, Sander G, Kotzot D, Bauer JW, Laimer M. Klausegger A, et al. Diagnostics (Basel). 2022 Oct 11;12(10):2460. doi: 10.3390/diagnostics12102460. Diagnostics (Basel). 2022. PMID: 36292148 Free PMC article.
Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.
Bischof J, March OP, Liemberger B, Haas SA, Hainzl S, Petković I, Leb-Reichl V, Illmer J, Korotchenko E, Klausegger A, Hoog A, Binder HM, Garcia M, Duarte B, Strunk D, Larcher F, Reichelt J, Guttmann-Gruber C, Wally V, Hofbauer JP, Bauer JW, Cathomen T, Kocher T, Koller U. Bischof J, et al. Among authors: klausegger a. Mol Ther. 2022 Aug 3;30(8):2680-2692. doi: 10.1016/j.ymthe.2022.04.020. Epub 2022 Apr 30. Mol Ther. 2022. PMID: 35490295 Free PMC article.
Phenotypic alleviation in LAMB3-mutated severe junctional epidermolysis bullosa.
Medek K, Klausegger A, Ude-Schoder K, Prodinger C, Breitenbach-Koller H, Bauer JW, Laimer M. Medek K, et al. Among authors: klausegger a. J Eur Acad Dermatol Venereol. 2022 Aug;36(8):e631-e634. doi: 10.1111/jdv.18091. Epub 2022 Mar 31. J Eur Acad Dermatol Venereol. 2022. PMID: 35305048 No abstract available.
5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa.
Mayr E, Ablinger M, Lettner T, Murauer EM, Guttmann-Gruber C, Piñón Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U, Wally V. Mayr E, et al. Among authors: klausegger a. Int J Mol Sci. 2022 Feb 2;23(3):1732. doi: 10.3390/ijms23031732. Int J Mol Sci. 2022. PMID: 35163654 Free PMC article.
Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial.
Guttmann-Gruber C, Piñón Hofbauer J, Tockner B, Reichl V, Klausegger A, Hofbauer P, Wolkersdorfer M, Tham KC, Lim SS, Common JE, Diem A, Ude-Schoder K, Hitzl W, Lagler F, Reichelt J, Bauer JW, Lang R, Laimer M. Guttmann-Gruber C, et al. Among authors: klausegger a. Orphanet J Rare Dis. 2021 Nov 8;16(1):473. doi: 10.1186/s13023-021-02062-2. Orphanet J Rare Dis. 2021. PMID: 34749770 Free PMC article. Clinical Trial.
A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa.
Kocher T, Bischof J, Haas SA, March OP, Liemberger B, Hainzl S, Illmer J, Hoog A, Muigg K, Binder HM, Klausegger A, Strunk D, Bauer JW, Cathomen T, Koller U. Kocher T, et al. Among authors: klausegger a. Mol Ther Nucleic Acids. 2021 May 29;25:237-250. doi: 10.1016/j.omtn.2021.05.015. eCollection 2021 Sep 3. Mol Ther Nucleic Acids. 2021. PMID: 34458008 Free PMC article.
Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.
Ablinger M, Lettner T, Friedl N, Potocki H, Palmetzhofer T, Koller U, Illmer J, Liemberger B, Hainzl S, Klausegger A, Reisenberger M, Lambert J, Van Gele M, Desmet E, Van Maelsaeke E, Wimmer M, Zauner R, Bauer JW, Wally V. Ablinger M, et al. Among authors: klausegger a. Int J Mol Sci. 2021 Mar 24;22(7):3326. doi: 10.3390/ijms22073326. Int J Mol Sci. 2021. PMID: 33805154 Free PMC article.
59 results