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395 results

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Page 1
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bönnemann CG. Zou Y, et al. Among authors: brockmann k. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11. Hum Mol Genet. 2014. PMID: 24334604 Free PMC article.
Muscle ultrasound in Bethlem myopathy.
Bönnemann CG, Brockmann K, Hanefeld F. Bönnemann CG, et al. Among authors: brockmann k. Neuropediatrics. 2003 Dec;34(6):335-6. doi: 10.1055/s-2003-44665. Neuropediatrics. 2003. PMID: 14681763 No abstract available.
Actin-related myopathy without any missense mutation in the ACTA1 gene.
Goebel HH, Brockmann K, Bönnemann CG, Warlo IA, Hanefeld F, Labeit S, Durling HJ, Laing NG. Goebel HH, et al. Among authors: brockmann k. J Child Neurol. 2004 Feb;19(2):149-53. doi: 10.1177/08830738040190021201. J Child Neurol. 2004. PMID: 15072110
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.
Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T. Cirak S, et al. Among authors: brockmann k. Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16. Brain. 2010. PMID: 20554658 Free PMC article.
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H. Thorwarth A, et al. Among authors: brockmann k. J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8. J Med Genet. 2014. PMID: 24714694 Free PMC article.
CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y, Freese L, Mänz J, Zoll B, Völter C, Brockmann K, Bögershausen N, Becker J, Wollnik B, Pauli S. Schulz Y, et al. Among authors: brockmann k. Hum Mol Genet. 2014 Aug 15;23(16):4396-405. doi: 10.1093/hmg/ddu156. Epub 2014 Apr 4. Hum Mol Genet. 2014. PMID: 24705355
395 results