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14,095 results

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Page 1
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: xiao j. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
Caytaxin deficiency causes generalized dystonia in rats.
Xiao J, Ledoux MS. Xiao J, et al. Brain Res Mol Brain Res. 2005 Nov 30;141(2):181-92. doi: 10.1016/j.molbrainres.2005.09.009. Epub 2005 Oct 24. Brain Res Mol Brain Res. 2005. PMID: 16246457
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. BMC Med Genet. 2009 Mar 11;10:24. doi: 10.1186/1471-2350-10-24. BMC Med Genet. 2009. PMID: 19284587 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. 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.
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. Hum Genet. 2010 Apr;127(4):470. Hum Genet. 2010. PMID: 21488252 No abstract available.
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. Hum Genet. 2010 Apr;127(4):469. Hum Genet. 2010. PMID: 21488277 No abstract available.
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. Hum Genet. 2010 Apr;127(4):469-70. Hum Genet. 2010. PMID: 21488296 No abstract available.
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