Molecular correlates of epilepsy in early diagnosed and treated Menkes disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9118-2
Reference25 articles.
1. Bahi-Buisson N, Kaminska A, Nabbout R et al (2006) Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia 47:380–386
2. Danks DM et al (1972) Menkes’ kinky hair syndrome: an inherited defect in copper absorption with widespread effects. Pedatrics 50:188–201
3. Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, Kaler SG et al (2010) Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clin Genet Apr 19 doi: 10.1111/j.1399-0004.2010.01451.x
4. El Meskini R, Crabtree KL, Cline LB et al (2007) ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis. Mol Cell Neurosci 34:409–421
5. Friedman E, Harden A, Koivikko M, Pampiglione G (1978) Menkes’ disease: neurophysiological aspects. J Neurol Neurosurg Psychiatry 41:505–510
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