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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: fu yh. Mov Disord. 2024 Mar;39(3):486-497. doi: 10.1002/mds.29704. Epub 2024 Jan 10. Mov Disord. 2024. PMID: 38197134
Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.
Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR. Garden GA, et al. Among authors: fu yh. J Neurosci. 2002 Jun 15;22(12):4897-905. doi: 10.1523/JNEUROSCI.22-12-04897.2002. J Neurosci. 2002. PMID: 12077187 Free PMC article.
What's new in epilepsy genetics?
Ptácek LJ, Fu YH. Ptácek LJ, et al. Among authors: fu yh. 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: fu yh. 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. Among authors: fu yh. Arch Neurol. 2004 Nov;61(11):1665-8. doi: 10.1001/archneur.61.11.1665. Arch Neurol. 2004. PMID: 15534176 Review. No abstract available.
518 results