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Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H; Genomics England Research Consortium; Hardy J, Polke J, Singleton AB, Blauwendraat C, Mathews KD, Tucci A, Fu YH, Houlden H, Ryten M, Ptáček LJ. Chen Z, et al. Among authors: ptacek lj. Mov Disord. 2024 Mar;39(3):486-497. doi: 10.1002/mds.29704. Epub 2024 Jan 10. Mov Disord. 2024. PMID: 38197134
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.
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.
Channels and disease: past, present, and future.
Ptácek LJ, Fu YH. Ptácek LJ, et al. Arch Neurol. 2004 Nov;61(11):1665-8. doi: 10.1001/archneur.61.11.1665. Arch Neurol. 2004. PMID: 15534176 Review. No abstract available.
194 results