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1998 3
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Page 1
The neurogenetics of mucolipidosis type IV.
Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. Altarescu G, et al. Among authors: frei kp. Neurology. 2002 Aug 13;59(3):306-13. doi: 10.1212/wnl.59.3.306. Neurology. 2002. PMID: 12182165
Mucolipidosis type IV: characteristic MRI findings.
Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Frei KP, et al. Neurology. 1998 Aug;51(2):565-9. doi: 10.1212/wnl.51.2.565. Neurology. 1998. PMID: 9710036
Constitutive achlorhydria in mucolipidosis type IV.
Schiffmann R, Dwyer NK, Lubensky IA, Tsokos M, Sutliff VE, Latimer JS, Frei KP, Brady RO, Barton NW, Blanchette-Mackie EJ, Goldin E. Schiffmann R, et al. Among authors: frei kp. Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1207-12. doi: 10.1073/pnas.95.3.1207. Proc Natl Acad Sci U S A. 1998. PMID: 9448310 Free PMC article.
Novel THAP1 sequence variants in primary dystonia.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Among authors: frei kp. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca. Neurology. 2010. PMID: 20083799 Free PMC article.
Myoclonus in Gaucher disease.
Frei KP, Schiffmann R. Frei KP, et al. Adv Neurol. 2002;89:41-8. Adv Neurol. 2002. PMID: 11968465 Review. No abstract available.
High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS. Xiao J, et al. Among authors: frei kp. BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. BMC Med Genet. 2009. PMID: 19284587 Free PMC article.
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzińska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS. Vemula SR, et al. Among authors: frei kp. Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27. Hum Mol Genet. 2013. PMID: 23449625 Free PMC article.
20 results