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Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Neuser S, Brechmann B, Heimer G, Brösse I, Schubert S, O'Grady L, Zech M, Srivastava S, Sweetser DA, Dincer Y, Mall V, Winkelmann J, Behrends C, Darras BT, Graham RJ, Jayakar P, Byrne B, Bar-Aluma BE, Haberman Y, Szeinberg A, Aldhalaan HM, Hashem M, Al Tenaiji A, Ismayl O, Al Nuaimi AE, Maher K, Ibrahim S, Khan F, Houlden H, Ramakumaran VS, Pagnamenta AT, Posey JE, Lupski JR, Tan WH, ElGhazali G, Herman I, Muñoz T, Repetto GM, Seitz A, Krumbiegel M, Poli MC, Kini U, Efthymiou S, Meiler J, Maroofian R, Alkuraya FS, Abou Jamra R, Popp B, Ben-Zeev B, Ebrahimi-Fakhari D. Neuser S, et al. Among authors: zech m. Hum Mutat. 2021 Jun;42(6):762-776. doi: 10.1002/humu.24206. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33847017
Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2015 Oct;21(10):1278-81. doi: 10.1016/j.parkreldis.2015.08.017. Epub 2015 Aug 20. Parkinsonism Relat Disord. 2015. PMID: 26318963
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J. Zech M, et al. Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839873 Free PMC article.
KMT2B rare missense variants in generalized dystonia.
Zech M, Jech R, Havránková P, Fečíková A, Berutti R, Urgošík D, Kemlink D, Strom TM, Roth J, Růžička E, Winkelmann J. Zech M, et al. Mov Disord. 2017 Jul;32(7):1087-1091. doi: 10.1002/mds.27026. Epub 2017 May 18. Mov Disord. 2017. PMID: 28520167
188 results