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Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: breuer m. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Among authors: breuer m. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R, Murayama K, Janecke AR, Haack TB, Breuer M, Knisely AS, Harting I, Ohashi T, Okazaki Y, Watanabe D, Tokuzawa Y, Kotzaeridou U, Kölker S, Sauer S, Carl M, Straub S, Entenmann A, Gizewski E, Feichtinger RG, Mayr JA, Lackner K, Strom TM, Meitinger T, Müller T, Ohtake A, Hoffmann GF, Prokisch H, Staufner C. Kopajtich R, et al. Among authors: breuer m. Am J Hum Genet. 2016 Aug 4;99(2):414-22. doi: 10.1016/j.ajhg.2016.05.027. Epub 2016 Jul 14. Am J Hum Genet. 2016. PMID: 27426735 Free PMC article.
Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria.
Poerschke S, Oeljeklaus S, Cruz-Zaragoza LD, Schenzielorz A, Dahal D, Hillen HS, Das H, Kremer LS, Valpadashi A, Breuer M, Sattmann J, Richter-Dennerlein R, Warscheid B, Dennerlein S, Rehling P. Poerschke S, et al. Among authors: breuer m. Mol Cell. 2024 Jan 18;84(2):345-358.e5. doi: 10.1016/j.molcel.2023.12.013. Epub 2024 Jan 9. Mol Cell. 2024. PMID: 38199007 Free PMC article.
Effect of monovalent COVID-19 vaccines on viral interference between SARS-CoV-2 and several DNA viruses in patients with long-COVID syndrome.
Gyöngyösi M, Lukovic D, Mester-Tonczar J, Zlabinger K, Einzinger P, Spannbauer A, Schweiger V, Schefberger K, Samaha E, Bergler-Klein J, Riesenhuber M, Nitsche C, Hengstenberg C, Mucher P, Haslacher H, Breuer M, Strassl R, Puchhammer-Stöckl E, Loewe C, Beitzke D, Hasimbegovic E, Zelniker TA. Gyöngyösi M, et al. Among authors: breuer m. NPJ Vaccines. 2023 Sep 29;8(1):145. doi: 10.1038/s41541-023-00739-2. NPJ Vaccines. 2023. PMID: 37773184 Free PMC article.
289 results