Horn N - Search Results

1

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: horn n. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

2

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: horn n. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

3

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Horváth R, et al. Among authors: horn n. J Inherit Metab Dis. 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. J Inherit Metab Dis. 2005. PMID: 15902551

4

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.

Paulsen M, Lund C, Akram Z, Winther JR, Horn N, Møller LB. Paulsen M, et al. Among authors: horn n. Am J Hum Genet. 2006 Aug;79(2):214-29. doi: 10.1086/505407. Epub 2006 Jun 5. Am J Hum Genet. 2006. PMID: 16826513 Free PMC article.

5

Identification of point mutations in 41 unrelated patients affected with Menkes disease.

Tümer Z, Lund C, Tolshave J, Vural B, Tønnesen T, Horn N. Tümer Z, et al. Among authors: horn n. Am J Hum Genet. 1997 Jan;60(1):63-71. Am J Hum Genet. 1997. PMID: 8981948 Free PMC article.

6

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

Hansen LL, Horn N, Dahl HH, Kruse TA. Hansen LL, et al. Among authors: horn n. Hum Mol Genet. 1994 Jun;3(6):1021-2. doi: 10.1093/hmg/3.6.1021. Hum Mol Genet. 1994. PMID: 7545958 No abstract available.

7

Møller LB, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N. Møller LB, et al. Among authors: horn n. Am J Hum Genet. 2000 Apr;66(4):1211-20. doi: 10.1086/302857. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739752 Free PMC article.

8

Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.

Masson W, Hughes H, Papworth D, Boyd Y, Horn N. Masson W, et al. Among authors: horn n. J Med Genet. 1997 Sep;34(9):729-32. doi: 10.1136/jmg.34.9.729. J Med Genet. 1997. PMID: 9321757 Free PMC article.

9

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.

Chelly J, Tümer Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, Monaco AP. Chelly J, et al. Among authors: horn n. Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14. Nat Genet. 1993. PMID: 8490646

10

Expression, purification and copper-binding studies of the first metal-binding domain of Menkes protein.

Jensen PY, Bonander N, Horn N, Tümer Z, Farver O. Jensen PY, et al. Among authors: horn n. Eur J Biochem. 1999 Sep;264(3):890-6. doi: 10.1046/j.1432-1327.1999.00680.x. Eur J Biochem. 1999. PMID: 10491137 Free article.

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