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Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A. Herzog R, et al. Among authors: hellenbroich y. Ann Clin Transl Neurol. 2021 Jul;8(7):1524-1527. doi: 10.1002/acn3.51403. Epub 2021 Jun 6. Ann Clin Transl Neurol. 2021. PMID: 34092044 Free PMC article.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: hellenbroich y. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
Lohmann K, Redin C, Tönnies H, Bressman SB, Subero JIM, Wiegers K, Hinrichs F, Hellenbroich Y, Rakovic A, Raymond D, Ozelius LJ, Schwinger E, Siebert R, Talkowski ME, Saunders-Pullman R, Klein C. Lohmann K, et al. Among authors: hellenbroich y. JAMA Neurol. 2017 Jul 1;74(7):806-812. doi: 10.1001/jamaneurol.2017.0666. JAMA Neurol. 2017. PMID: 28558098 Free PMC article.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Pauly MG, Hellenbroich Y, Grundmann-Hauser K, Hinrichs F, Lohmann K, Brüggemann N. Pauly MG, et al. Among authors: hellenbroich y. Mov Disord Clin Pract. 2021 Jun 14;8(6):972-976. doi: 10.1002/mdc3.13258. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34405109 Free PMC article. No abstract available.
51 results