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Do CTG expansions at the SCA8 locus cause ataxia?
Schöls L, Bauer I, Zühlke C, Schulte T, Kölmel C, Bürk K, Topka H, Bauer P, Przuntek H, Riess O. Schöls L, et al. Among authors: bauer i, bauer p. Ann Neurol. 2003 Jul;54(1):110-5. doi: 10.1002/ana.10608. Ann Neurol. 2003. PMID: 12838526
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype.
Bauer I, Gencik M, Laccone F, Peters H, Weber BH, Feder EH, Weirich H, Morris-Rosendahl DJ, Rolfs A, Gencikova A, Bauer P, Wenning GK, Epplen JT, Holmes SE, Margolis RL, Ross CA, Riess O. Bauer I, et al. Among authors: bauer p. Ann Neurol. 2002 May;51(5):662. doi: 10.1002/ana.10184. Ann Neurol. 2002. PMID: 12112122 No abstract available.
Transgenic rat model of Huntington's disease.
von Hörsten S, Schmitt I, Nguyen HP, Holzmann C, Schmidt T, Walther T, Bader M, Pabst R, Kobbe P, Krotova J, Stiller D, Kask A, Vaarmann A, Rathke-Hartlieb S, Schulz JB, Grasshoff U, Bauer I, Vieira-Saecker AM, Paul M, Jones L, Lindenberg KS, Landwehrmeyer B, Bauer A, Li XJ, Riess O. von Hörsten S, et al. Among authors: bauer i, bauer a. Hum Mol Genet. 2003 Mar 15;12(6):617-24. doi: 10.1093/hmg/ddg075. Hum Mol Genet. 2003. PMID: 12620967
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Dörk T, Macek M Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zékanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S. Dörk T, et al. Among authors: bauer i. Hum Genet. 2000 Mar;106(3):259-68. doi: 10.1007/s004390000246. Hum Genet. 2000. PMID: 10798353
Geographic distribution and origin of CFTR mutations in Germany.
Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, Schmidtke J, Lindner M, Eigel A, Horst J, Kaiser R, Lentze MJ, Schmidt K, von der Hardt H, Estivill X. Tümmler B, et al. Among authors: bauer i. Hum Genet. 1996 Jun;97(6):727-31. doi: 10.1007/BF02346181. Hum Genet. 1996. PMID: 8641688
431 results