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Page 1
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group. von Spiczak S, et al. Among authors: stephani u. Neurology. 2017 Jul 25;89(4):385-394. doi: 10.1212/WNL.0000000000004152. Epub 2017 Jun 30. Neurology. 2017. PMID: 28667181 Free PMC article.
Neuroborreliosis and isolated trochlear palsy.
Müller D, Neubauer BA, Waltz S, Stephani U. Müller D, et al. Among authors: stephani u. Eur J Paediatr Neurol. 1998;2(5):275-6. doi: 10.1016/s1090-3798(98)80042-1. Eur J Paediatr Neurol. 1998. PMID: 10726831
Clinical spectrum and genetics of Rolandic epilepsy.
Neubauer BA, Hahn A, Stephani U, Doose H. Neubauer BA, et al. Among authors: stephani u. Adv Neurol. 2002;89:475-9. Adv Neurol. 2002. PMID: 11968472 Review. No abstract available.
Photosensitivity: genetics and clinical significance.
Neubauer BA, Waltz S, Grothe M, Hahn A, Tuxhorn I, Sander T, Kurlemann G, Stephani U. Neubauer BA, et al. Among authors: stephani u. Adv Neurol. 2005;95:217-26. Adv Neurol. 2005. PMID: 15508925 No abstract available.
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Kearney JA, et al. Among authors: stephani u. Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009. Pediatr Neurol. 2006. PMID: 16458823
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?
Lohmann-Hedrich K, Neumann A, Kleensang A, Lohnau T, Muhle H, Djarmati A, König IR, Pramstaller PP, Schwinger E, Kramer PL, Ziegler A, Stephani U, Klein C. Lohmann-Hedrich K, et al. Among authors: stephani u. Neurology. 2008 Feb 26;70(9):686-94. doi: 10.1212/01.wnl.0000282760.07650.ba. Epub 2007 Nov 21. Neurology. 2008. PMID: 18032746
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. Neubauer BA, et al. Among authors: stephani u. Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec. Neurology. 2008. PMID: 18625963
279 results