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Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German A, Lissewski C, Coppola S, Pantaleoni F, Kocherscheid L, Altmüller F, Schanze D, Logeswaran T, Chahrokh-Zadeh S, Munzig A, Nakhaei-Rad S, Cavé H, Ahmadian MR, Tartaglia M, Zenker M. Motta M, et al. Among authors: chahrokh zadeh s. Hum Mol Genet. 2020 Jul 21;29(11):1772-1783. doi: 10.1093/hmg/ddz108. Hum Mol Genet. 2020. PMID: 31108500
A novel pathogenic CACNA1A variant causing episodic ataxia type 2 (EA2) spectrum phenotype in four family members and a novel combined therapy.
Penkava J, Ledderose S, Chahrokh-Zadeh S, Munzig A, Eulenburg Z, Huppert D, Strupp M, Becker-Bense S. Penkava J, et al. Among authors: chahrokh zadeh s. J Neurol. 2020 Dec;267(Suppl 1):181-184. doi: 10.1007/s00415-020-10190-1. Epub 2020 Sep 10. J Neurol. 2020. PMID: 32910250 Free PMC article. No abstract available.
FRAXE testing.
Holinski-Feder E, Chahrokh-Zadeh S, Jedele KB, Meindl A, Steinbach P, Wöhrle D. Holinski-Feder E, et al. Among authors: chahrokh zadeh s. Am J Hum Genet. 1996 Nov;59(5):1168-9. Am J Hum Genet. 1996. PMID: 8900249 Free PMC article. No abstract available.
SCA2 trinucleotide expansion in German SCA patients.
Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G. Riess O, et al. Among authors: chahrokh zadeh s. Neurogenetics. 1997 May;1(1):59-64. doi: 10.1007/s100480050009. Neurogenetics. 1997. PMID: 10735276