Kaler SG - Search Results

1

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG. Schoonveld C, et al. Among authors: kaler sg. Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14. Clin Genet. 2013. PMID: 23151012 Free PMC article. No abstract available.

2

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA. Kaler SG, et al. Biochem Mol Med. 1996 Feb;57(1):37-46. doi: 10.1006/bmme.1996.0007. Biochem Mol Med. 1996. PMID: 8812725

3

Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.

Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Donsante A, et al. Among authors: kaler sg. J Med Genet. 2007 Aug;44(8):492-7. doi: 10.1136/jmg.2007.050013. Epub 2007 May 11. J Med Genet. 2007. PMID: 17496194 Free PMC article.

4

Neonatal diagnosis and treatment of Menkes disease.

Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Kaler SG, et al. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613. N Engl J Med. 2008. PMID: 18256395 Free PMC article.

5

Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.

Tang J, Donsante A, Desai V, Patronas N, Kaler SG. Tang J, et al. Among authors: kaler sg. Mol Genet Metab. 2008 Nov;95(3):174-81. doi: 10.1016/j.ymgme.2008.06.015. Epub 2008 Aug 26. Mol Genet Metab. 2008. PMID: 18752978 Free PMC article.

6

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Kaler SG, Tang J, Donsante A, Kaneski CR. Kaler SG, et al. Ann Neurol. 2009 Jan;65(1):108-13. doi: 10.1002/ana.21576. Ann Neurol. 2009. PMID: 19194885 Free PMC article.

7

Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG. Desai V, et al. Among authors: kaler sg. Clin Genet. 2011 Feb;79(2):176-82. doi: 10.1111/j.1399-0004.2010.01451.x. Clin Genet. 2011. PMID: 20497190 Free PMC article.

8

Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.

Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, Greenfield JC. Kaler SG, et al. J Inherit Metab Dis. 2010 Oct;33(5):583-9. doi: 10.1007/s10545-010-9118-2. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652413 Free PMC article.

9

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

Donsante A, Johnson P, Jansen LA, Kaler SG. Donsante A, et al. Among authors: kaler sg. Am J Med Genet A. 2010 Oct;152A(10):2529-34. doi: 10.1002/ajmg.a.33632. Am J Med Genet A. 2010. PMID: 20799318 Free PMC article.

10

ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.

Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, Kaler SG. Donsante A, et al. Among authors: kaler sg. Mol Ther. 2011 Dec;19(12):2114-23. doi: 10.1038/mt.2011.143. Epub 2011 Aug 30. Mol Ther. 2011. PMID: 21878905 Free PMC article.

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