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Page 1
Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Uyanik G, et al. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. Neurology. 2007. PMID: 17664403
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: uyanik g. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U, Uyanik G, Gross C, Walter MC, Bohring A, Cohen M, Oehl-Jaschkowitz B, Bird LM, Shamdeen GM, Bogdahn U, Schuierer G, Topaloglu H, Aigner L, Lochmüller H, Winkler J. Hehr U, et al. Among authors: uyanik g. Neurogenetics. 2007 Nov;8(4):279-88. doi: 10.1007/s10048-007-0096-y. Epub 2007 Sep 29. Neurogenetics. 2007. PMID: 17906881
[Congenital muscular dystrophies: muscle-eye-brain disease].
Meyer S, Struffert T, Uyanik G, Oehl-Jaschkowitz B, Hehr U, Shamdeen MG. Meyer S, et al. Among authors: uyanik g. Klin Padiatr. 2005 Mar-Apr;217(2):68-9. doi: 10.1055/s-2004-836254. Klin Padiatr. 2005. PMID: 15770576 German.
75 results