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Page 1
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Mensah MA, Niskanen H, Magalhaes AP, Basu S, Kircher M, Sczakiel HL, Reiter AMV, Elsner J, Meinecke P, Biskup S, Chung BHY, Dombrowsky G, Eckmann-Scholz C, Hitz MP, Hoischen A, Holterhus PM, Hülsemann W, Kahrizi K, Kalscheuer VM, Kan A, Krumbiegel M, Kurth I, Leubner J, Longardt AC, Moritz JD, Najmabadi H, Skipalova K, Snijders Blok L, Tzschach A, Wiedersberg E, Zenker M, Garcia-Cabau C, Buschow R, Salvatella X, Kraushar ML, Mundlos S, Caliebe A, Spielmann M, Horn D, Hnisz D. Mensah MA, et al. Among authors: tzschach a. Nature. 2023 Feb;614(7948):564-571. doi: 10.1038/s41586-022-05682-1. Epub 2023 Feb 8. Nature. 2023. PMID: 36755093 Free PMC article.
A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris.
Yan KL, Zhang XJ, Wang ZM, Yang S, Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang KY, Niu ZM, Xu SJ, Tzschach A, Ropers H, Huang W, Liu JJ. Yan KL, et al. Among authors: tzschach a. J Invest Dermatol. 2006 May;126(5):1003-5. doi: 10.1038/sj.jid.5700186. J Invest Dermatol. 2006. PMID: 16498398 Free article.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: tzschach a. Mitochondrion. 2013 Nov;13(6):743-8. doi: 10.1016/j.mito.2013.03.002. Epub 2013 Mar 14. Mitochondrion. 2013. PMID: 23499752 Free PMC article.
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW. Frints SG, et al. Among authors: tzschach a. Eur J Hum Genet. 2008 Sep;16(9):1029-37. doi: 10.1038/ejhg.2008.66. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398436
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC, Bauer P, Buiting K, Dufke C, Guillén-Navarro E, Johnson DS, Koehler U, López-González V, Lüdecke HJ, Male A, Morrogh D, Rieß A, Tzschach A, Wieczorek D, Kuechler A. Czeschik JC, et al. Among authors: tzschach a. Orphanet J Rare Dis. 2013 Sep 21;8:146. doi: 10.1186/1750-1172-8-146. Orphanet J Rare Dis. 2013. PMID: 24053514 Free PMC article.
147 results