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A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Fay A, Garcia Y, Margeta M, Maharjan S, Jürgensen C, Briceño J, Garcia M, Yin S, Bassaganyas L, McMahon T, Hou YM, Fu YH, Ptáček LJ. Fay A, et al. Among authors: ptacek lj. Ann Neurol. 2020 Oct;88(4):830-842. doi: 10.1002/ana.25854. Epub 2020 Aug 29. Ann Neurol. 2020. PMID: 32715519 Free PMC article.
What's new in epilepsy genetics?
Ptácek LJ, Fu YH. Ptácek LJ, et al. Mol Psychiatry. 2003 May;8(5):463-5. doi: 10.1038/sj.mp.4001292. Mol Psychiatry. 2003. PMID: 12808423 Review. No abstract available.
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. Lee HY, et al. Among authors: ptacek lj. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496428
Familial adult myoclonic epilepsy (FAME).
Uyama E, Fu YH, Ptácek LJ. Uyama E, et al. Among authors: ptacek lj. Adv Neurol. 2005;95:281-8. Adv Neurol. 2005. PMID: 15508931 Review. No abstract available.
209 results