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Page 1
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A, Djarmati A, Lohmann-Hedrich K, Farrell K, Zeller JA, Allert N, Papengut F, Petersen B, Fung V, Sue CM, O'Sullivan D, Mahant N, Kupsch A, Chuang RS, Wiegers K, Pawlack H, Hagenah J, Ozelius LJ, Stephani U, Schuit R, Lang AE, Volkmann J, Münchau A, Klein C. Grünewald A, et al. Among authors: stephani u. Hum Mutat. 2008 Feb;29(2):331-2. doi: 10.1002/humu.9521. Hum Mutat. 2008. PMID: 18205193
Infectious mononucleosis and unilateral tongue writhing.
van Baalen A, Petersen B, Stephani U. van Baalen A, et al. Among authors: stephani u. Neurology. 2006 Apr 11;66(7):1110. doi: 10.1212/01.wnl.0000204234.89374.54. Neurology. 2006. PMID: 16606931 No abstract available.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Schubert J, Paravidino R, Becker F, Berger A, Bebek N, Bianchi A, Brockmann K, Capovilla G, Dalla Bernardina B, Fukuyama Y, Hoffmann GF, Jurkat-Rott K, Anttonen AK, Kurlemann G, Lehesjoki AE, Lehmann-Horn F, Mastrangelo M, Mause U, Müller S, Neubauer B, Püst B, Rating D, Robbiano A, Ruf S, Schroeder C, Seidel A, Specchio N, Stephani U, Striano P, Teichler J, Turkdogan D, Vigevano F, Viri M, Bauer P, Zara F, Lerche H, Weber YG. Schubert J, et al. Among authors: stephani u. Hum Mutat. 2012 Oct;33(10):1439-43. doi: 10.1002/humu.22126. Epub 2012 Jun 11. Hum Mutat. 2012. PMID: 22623405
Exome sequencing in a family with restless legs syndrome.
Weissbach A, Siegesmund K, Brüggemann N, Schmidt A, Kasten M, Pichler I, Muhle H, Lohmann E, Lohnau T, Schwinger E, Hagenah J, Stephani U, Pramstaller PP, Klein C, Lohmann K. Weissbach A, et al. Among authors: stephani u. Mov Disord. 2012 Nov;27(13):1686-9. doi: 10.1002/mds.25191. Mov Disord. 2012. PMID: 23192925
Structural genomic variation in childhood epilepsies with complex phenotypes.
Helbig I, Swinkels ME, Aten E, Caliebe A, van 't Slot R, Boor R, von Spiczak S, Muhle H, Jähn JA, van Binsbergen E, van Nieuwenhuizen O, Jansen FE, Braun KP, de Haan GJ, Tommerup N, Stephani U, Hjalgrim H, Poot M, Lindhout D, Brilstra EH, Møller RS, Koeleman BP. Helbig I, et al. Among authors: stephani u. Eur J Hum Genet. 2014 Jul;22(7):896-901. doi: 10.1038/ejhg.2013.262. Epub 2013 Nov 27. Eur J Hum Genet. 2014. PMID: 24281369 Free PMC article. Clinical Trial.
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
284 results