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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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Article
Acesso em linha: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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