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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch H, Geier C, Adams S, Budde B, Rudolph A, Zacharias U, Schulz-Menger J, Spuler A, Yaou RB, Nürnberg P, Voit T, Bonne G, Spuler S. Knoblauch H, et al. Among authors: nurnberg p. Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839. Ann Neurol. 2010. PMID: 20186852
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
Geier C, Perrot A, Ozcelik C, Binner P, Counsell D, Hoffmann K, Pilz B, Martiniak Y, Gehmlich K, van der Ven PF, Fürst DO, Vornwald A, von Hodenberg E, Nürnberg P, Scheffold T, Dietz R, Osterziel KJ. Geier C, et al. Among authors: nurnberg p. Circulation. 2003 Mar 18;107(10):1390-5. doi: 10.1161/01.cir.0000056522.82563.5f. Circulation. 2003. PMID: 12642359
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.
Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. Budde BS, et al. Among authors: nurnberg p. PLoS One. 2007 Dec 26;2(12):e1362. doi: 10.1371/journal.pone.0001362. PLoS One. 2007. PMID: 18159245 Free PMC article.
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. Geier C, et al. Among authors: nurnberg p. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. doi: 10.1093/hmg/ddn160. Epub 2008 May 27. Hum Mol Genet. 2008. PMID: 18505755
A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?
Puk O, Esposito I, Söker T, Löster J, Budde B, Nürnberg P, Michel-Soewarto D, Fuchs H, Wolf E, Hrabé de Angelis M, Graw J. Puk O, et al. Among authors: nurnberg p. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4311-8. doi: 10.1167/iovs.09-3451. Epub 2009 Apr 30. Invest Ophthalmol Vis Sci. 2009. PMID: 19407009
689 results