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A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Among authors: freudenberg j. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
Cannabinoid receptor type 2 gene is associated with human osteoporosis.
Karsak M, Cohen-Solal M, Freudenberg J, Ostertag A, Morieux C, Kornak U, Essig J, Erxlebe E, Bab I, Kubisch C, de Vernejoul MC, Zimmer A. Karsak M, et al. Among authors: freudenberg j. Hum Mol Genet. 2005 Nov 15;14(22):3389-96. doi: 10.1093/hmg/ddi370. Epub 2005 Oct 4. Hum Mol Genet. 2005. PMID: 16204352
Haplotype-based systematic association studies of ATP1A2 in migraine with aura.
Netzer C, Todt U, Heinze A, Freudenberg J, Zumbroich V, Becker T, Goebel I, Ohlraun S, Goebel H, Kubisch C. Netzer C, et al. Among authors: freudenberg j. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr 5;141B(3):257-60. doi: 10.1002/ajmg.b.30283. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16508935
Replication study of the insulin receptor gene in migraine with aura.
Netzer C, Freudenberg J, Heinze A, Heinze-Kuhn K, Goebel I, McCarthy LC, Roses AD, Göbel H, Todt U, Kubisch C. Netzer C, et al. Among authors: freudenberg j. Genomics. 2008 Jun;91(6):503-7. doi: 10.1016/j.ygeno.2008.03.006. Epub 2008 May 2. Genomics. 2008. PMID: 18455362 Free article.
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Rakovic A, et al. Among authors: freudenberg j. Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399. Mov Disord. 2009. PMID: 19097176 Free article.
223 results