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121 results

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Whole-exome sequencing for variant discovery in blepharospasm.
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzińska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Tian J, et al. Among authors: van gerpen ja. Mol Genet Genomic Med. 2018 May 16;6(4):601-26. doi: 10.1002/mgg3.411. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770609 Free PMC article.
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. Vemula SR, et al. Among authors: van gerpen ja. Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11. Mol Genet Genomic Med. 2014. PMID: 24936516 Free PMC article.
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. Xiao J, et al. Among authors: van gerpen ja. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370264 Free PMC article.
Familial progressive supranuclear palsy: a literature review.
Fujioka S, Van Gerpen JA, Uitti RJ, Dickson DW, Wszolek ZK. Fujioka S, et al. Among authors: van gerpen ja. Neurodegener Dis. 2014;13(2-3):180-2. doi: 10.1159/000354975. Epub 2013 Sep 24. Neurodegener Dis. 2014. PMID: 24080486 Free article. Review.
Occurrence of Crohn's disease with Parkinson's disease.
Fujioka S, Curry SE, Kennelly KD, Tacik P, Heckman MG, Tsuboi Y, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Ikezu T, Wszolek ZK. Fujioka S, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2017 Apr;37:116-117. doi: 10.1016/j.parkreldis.2017.01.013. Epub 2017 Feb 10. Parkinsonism Relat Disord. 2017. PMID: 28215729 Free PMC article.
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. Xiao J, et al. Among authors: van gerpen ja. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488297 No abstract available.
Ataxin-2 repeat-length variation and neurodegeneration.
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R. Ross OA, et al. Among authors: van gerpen ja. Hum Mol Genet. 2011 Aug 15;20(16):3207-12. doi: 10.1093/hmg/ddr227. Epub 2011 May 24. Hum Mol Genet. 2011. PMID: 21610160 Free PMC article.
Investigating the role of FUS exonic variants in essential tremor.
Labbé C, Soto-Ortolaza AI, Rayaprolu S, Harriott AM, Strongosky AJ, Uitti RJ, Van Gerpen JA, Wszolek ZK, Ross OA. Labbé C, et al. Among authors: van gerpen ja. Parkinsonism Relat Disord. 2013 Aug;19(8):755-7. doi: 10.1016/j.parkreldis.2013.03.005. Epub 2013 Apr 16. Parkinsonism Relat Disord. 2013. PMID: 23601511 Free PMC article.
121 results