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Items: 1 to 20 of 99

1.

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms.

Hagerman P.

Acta Neuropathol. 2013 Jul;126(1):1-19. doi: 10.1007/s00401-013-1138-1. Epub 2013 Jun 21. Review.

2.

Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.

Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ, Rivera SM.

JAMA Neurol. 2013 Aug;70(8):1022-9. doi: 10.1001/jamaneurol.2013.2934.

3.

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.

Tassone F, Greco CM, Hunsaker MR, Seritan AL, Berman RF, Gane LW, Jacquemont S, Basuta K, Jin LW, Hagerman PJ, Hagerman RJ.

Genes Brain Behav. 2012 Jul;11(5):577-85. doi: 10.1111/j.1601-183X.2012.00779.x. Epub 2012 Apr 6.

4.

What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?

Foote MM, Careaga M, Berman RF.

Clin Neuropsychol. 2016 Aug;30(6):960-72. doi: 10.1080/13854046.2016.1158254. Epub 2016 Jun 29. Review.

5.

Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).

Adams JS, Adams PE, Nguyen D, Brunberg JA, Tassone F, Zhang W, Koldewyn K, Rivera SM, Grigsby J, Zhang L, DeCarli C, Hagerman PJ, Hagerman RJ.

Neurology. 2007 Aug 28;69(9):851-9.

PMID:
17724287
6.

FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

Tassone F, Iwahashi C, Hagerman PJ.

RNA Biol. 2004 Jul;1(2):103-5. Epub 2004 Jul 17.

PMID:
17179750
7.

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK.

Acta Neuropathol. 2011 Oct;122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23.

8.

Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).

Greco CM, Berman RF, Martin RM, Tassone F, Schwartz PH, Chang A, Trapp BD, Iwahashi C, Brunberg J, Grigsby J, Hessl D, Becker EJ, Papazian J, Leehey MA, Hagerman RJ, Hagerman PJ.

Brain. 2006 Jan;129(Pt 1):243-55. Epub 2005 Dec 5.

PMID:
16332642
9.
10.

Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.

Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C.

Biochem J. 2010 Aug 1;429(3):545-52. doi: 10.1042/BJ20091960.

11.

FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.

Santa MarĂ­a L, Pugin A, Alliende MA, Aliaga S, Curotto B, Aravena T, Tang HT, Mendoza-Morales G, Hagerman R, Tassone F.

Clin Genet. 2014 Oct;86(4):378-82. doi: 10.1111/cge.12278. Epub 2013 Oct 13.

12.

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ.

Hum Mol Genet. 2010 Jan 15;19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.

13.

The fragile X-associated tremor ataxia syndrome.

Tassone F, Hagerman R.

Results Probl Cell Differ. 2012;54:337-57. doi: 10.1007/978-3-642-21649-7_18.

PMID:
22009361
14.

Advances in understanding the molecular basis of FXTAS.

Garcia-Arocena D, Hagerman PJ.

Hum Mol Genet. 2010 Apr 15;19(R1):R83-9. doi: 10.1093/hmg/ddq166. Epub 2010 Apr 29. Review.

15.

Expanded clinical phenotype of women with the FMR1 premutation.

Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ.

Am J Med Genet A. 2008 Apr 15;146A(8):1009-16. doi: 10.1002/ajmg.a.32060.

16.

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F.

Am J Med Genet A. 2015 Sep;167A(9):2154-61. doi: 10.1002/ajmg.a.37125. Epub 2015 Apr 29.

PMID:
25920745
17.

Methadone use in a male with the FMRI premutation and FXTAS.

Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ.

Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21.

18.

RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome.

Li Y, Jin P.

Brain Res. 2012 Jun 26;1462:112-7. doi: 10.1016/j.brainres.2012.02.057. Epub 2012 Mar 9. Review.

19.

Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.

Kalus S, King J, Lui E, Gaillard F.

J Clin Neurosci. 2016 Jan;23:162-4. doi: 10.1016/j.jocn.2015.08.010. Epub 2015 Oct 2.

PMID:
26439425
20.

Tremor/ataxia syndrome and fragile X premutation: diagnostic caveats.

Loesch DZ, Litewka L, Churchyard A, Gould E, Tassone F, Cook M.

J Clin Neurosci. 2007 Mar;14(3):245-8. Epub 2006 Dec 27.

PMID:
17194594

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