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A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Lee CY, Petkova M, Morales-Gonzalez S, Gimber N, Schmoranzer J, Meisel A, Böhmerle W, Stenzel W, Schuelke M, Schwarz JM. Lee CY, et al. Among authors: stenzel w. Neuropathol Appl Neurobiol. 2020 Oct;46(6):588-601. doi: 10.1111/nan.12617. Epub 2020 May 7. Neuropathol Appl Neurobiol. 2020. PMID: 32267004
Juvenile autophagic vacuolar myopathy - a new entity or variant?
Stenzel W, Nishino I, von Moers A, Kadry MA, Glaeser D, Heppner FL, Goebel HH. Stenzel W, et al. Neuropathol Appl Neurobiol. 2013 Jun;39(4):449-53. doi: 10.1111/nan.12018. Neuropathol Appl Neurobiol. 2013. PMID: 23324055 No abstract available.
Hepatitis E-induced severe myositis.
Mengel AM, Stenzel W, Meisel A, Büning C. Mengel AM, et al. Among authors: stenzel w. Muscle Nerve. 2016 Feb;53(2):317-20. doi: 10.1002/mus.24959. Epub 2015 Nov 24. Muscle Nerve. 2016. PMID: 26514272
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.
Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Knierim E, et al. Among authors: stenzel w. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924529 Free PMC article.
302 results