A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia...

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Asıl Yazarlar: Bassuk, Alexander G., Wallace, Robyn H., Buhr, Aimee, Buller, Andrew R., Afawi, Zaid, Shimojo, Masahito, Miyata, Shingo, Chen, Shan, Gonzalez-Alegre, Pedro, Griesbach, Hilary L., Wu, Shu, Nashelsky, Marcus, Vladar, Eszter K., Antic, Dragana, Ferguson, Polly J., Cirak, Sebahattin, Voit, Thomas, Scott, Matthew P., Axelrod, Jeffrey D., Gurnett, Christina, Daoud, Azhar S., Kivity, Sara, Neufeld, Miriam Y., Mazarib, Aziz, Straussberg, Rachel, Walid, Simri, Korczyn, Amos D., Slusarski, Diane C., Berkovic, Samuel F., El-Shanti, Hatem I.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2008
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668041/
https://ncbi.nlm.nih.gov/pubmed/18976727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.003
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