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Items: 18

1.

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.

Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.

2.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488298
3.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488297
4.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):469-70. No abstract available.

PMID:
21488296
5.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):469. No abstract available.

PMID:
21488277
6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello R, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, LeDoux MS.

Hum Genet. 2010 Apr;127(4):470. No abstract available.

PMID:
21488252
7.

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for 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, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS.

Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Erratum in: Mov Disord. 2012 Mar;27(3):465.

8.

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.

Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.

9.

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.

BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24.

10.

Hemifacial spasm producing tremor-like movements of the head.

Frei KP, Truong DD.

J Neurol Sci. 2008 Oct 15;273(1-2):133-4. doi: 10.1016/j.jns.2008.06.011. Epub 2008 Jul 25.

PMID:
18656904
11.

Molecular defects of the dystonia-causing torsinA mutation.

Pham P, Frei KP, Woo W, Truong DD.

Neuroreport. 2006 Nov 6;17(16):1725-8.

PMID:
17047461
12.

Natural history of posttraumatic cervical dystonia.

Frei KP, Pathak M, Jenkins S, Truong DD.

Mov Disord. 2004 Dec;19(12):1492-8. Review.

PMID:
15390063
13.

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.

Neurology. 2002 Aug 13;59(3):306-13.

PMID:
12182165
14.

Myoclonus in Gaucher disease.

Frei KP, Schiffmann R.

Adv Neurol. 2002;89:41-8. Review. No abstract available.

PMID:
11968465
15.

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T, Charria-Ortiz G, Ferri R, Arai AE, Brady RO, Schiffmann R.

Stroke. 2002 Feb;33(2):525-31.

PMID:
11823664
16.

Mucolipidosis type IV: characteristic MRI findings.

Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R.

Neurology. 1998 Aug;51(2):565-9.

PMID:
9710036
17.

Quantitative analysis of cerebral vasculopathy in patients with Fabry disease.

Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK, Barton NW, Schiffmann R.

Neurology. 1998 Jun;50(6):1746-9.

PMID:
9633721
18.

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.

Proc Natl Acad Sci U S A. 1998 Feb 3;95(3):1207-12.

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