Inhaltspezifische Aktionen

2010

Humangenetik, Publikationen 2010

 

  • Müller U: A molecular link between dystonia 1 and dystonia 6? Ann Neurol 68:418-420 (2010)
  • Müller U: Hereditäre Paragangliome: Pathogenese und "parent-of-origin"-Effekte. Medizinische Genetik. 22: 434-438 (2010) DOI:10.1007/s11825-010-0240-1
  • Nolte D, Sobanski E, Wißen A, Regula JU, Lichy C, Müller U: Spinocerebellar ataxia type 17 (SCA17) associated with an expansion of 42 glutamine residues in TBP. J Neurol Neurosurg Psychiatry 81:1396-1399 (2010)
  • Zirn B, Korenke C, Wagner M, Rudnik-Schöneborn S, Müller U: Concurrence of Dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family. Movement Disord, 26: 361-362 (2010) DOI: 10.1002/mds.23437
  • Herzfeld T, Korinthenberg R, Müller U: D216H polymorphism within TOR1A does not affect penetrance in DRD and is not a general modifier in primary dystonia. Movement Disorders 26:182-183 (2010), DOI: 10.1002/mds.23238
  • Rabe M, Felbecker A, Waibel S, Steinbach P, Winter P, Müller U, Ludolph AC :The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J Neurol 257:1298-302 (2010), DOI: 10.1007/s00415-010-5512-9
  • Söhn AS, Glöckle N, Duarte Doetzer A, Deuschl G, Felbor U, Topka HR, Schöls L, Riess O,  Bauer P, Müller U, Grundmann K: Prevalence of THAP1 mutations in a large cohort of German patients with primary dystonia. Movement Disord 5:1982-1986 (2010)
  • Yu CE, Marchani E, Nikisch G, Müller U, Nolte D, Hertel A, Wijsman EM, Bird TD: The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. Arch Neurol 67:631-633 (2010)
  • Stamelou M, de Silva R, Arias-Carrión O, Boura E, Höllerhage M, Oertel WH, Müller U, Höglinger GU: Rational therapeutic approaches to progressive supranuclear palsy. Brain 133:1578-1579 (2010)