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Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM, Ngoumou G, Park JW, Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A, Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Marques W Jr, Lourenço CM, Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ. de Carvalho LM, et al. Among authors: stenzel w. Arthritis Rheumatol. 2017 Oct;69(10):2081-2091. doi: 10.1002/art.40179. Epub 2017 Aug 22. Arthritis Rheumatol. 2017. PMID: 28605144 Free PMC article.
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.
Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. Mackenroth L, et al. Among authors: stenzel w. Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22. Am J Med Genet A. 2016. PMID: 26799614
Acute and chronic bacterial infections and sarcoidosis.
Deigendesch N, Stenzel W. Deigendesch N, et al. Among authors: stenzel w. Handb Clin Neurol. 2017;145:217-226. doi: 10.1016/B978-0-12-802395-2.00016-X. Handb Clin Neurol. 2017. PMID: 28987171 Review.
Acute and chronic viral infections.
Deigendesch N, Stenzel W. Deigendesch N, et al. Among authors: stenzel w. Handb Clin Neurol. 2017;145:227-243. doi: 10.1016/B978-0-12-802395-2.00017-1. Handb Clin Neurol. 2017. PMID: 28987172 Review.
Parasitic and fungal infections.
Deigendesch N, Costa Nunez J, Stenzel W. Deigendesch N, et al. Among authors: stenzel w. Handb Clin Neurol. 2017;145:245-262. doi: 10.1016/B978-0-12-802395-2.00018-3. Handb Clin Neurol. 2017. PMID: 28987173 Review.
Aicardi-Goutières syndrome with muscle involvement in early infancy.
Deigendesch N, Morales-Gonzalez S, Weschke B, Goebel HH, Schuelke M, Stenzel W. Deigendesch N, et al. Among authors: stenzel w. Neuropathol Appl Neurobiol. 2018 Dec;44(7):737-742. doi: 10.1111/nan.12454. Neuropathol Appl Neurobiol. 2018. PMID: 29210089 No abstract available.
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.
Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Frühwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grützmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knöfler R, Manstein DJ, Di Donato N. Latham SL, et al. Among authors: stenzel w. Nat Commun. 2018 Oct 12;9(1):4250. doi: 10.1038/s41467-018-06713-0. Nat Commun. 2018. PMID: 30315159 Free PMC article.
304 results