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Items: 1 to 20 of 257

1.

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.

Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ.

Am J Hum Genet. 2004 May;74(5):1051-6. Epub 2004 Apr 2.

2.

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.

Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ.

JAMA. 2004 Jan 28;291(4):460-9.

PMID:
14747503
3.

Fragile X-associated tremor/ataxia syndrome (FXTAS).

Hagerman PJ, Hagerman RJ.

Ment Retard Dev Disabil Res Rev. 2004;10(1):25-30. Review.

PMID:
14994285
4.

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
5.

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.

6.

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.

7.

Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA.

Cerebellum. 2015 Dec;14(6):650-62. doi: 10.1007/s12311-015-0659-7.

PMID:
25763861
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.

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
10.

Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.

Pretto DI, Kumar M, Cao Z, Cunningham CL, Durbin-Johnson B, Qi L, Berman R, Noctor SC, Hagerman RJ, Pessah IN, Tassone F.

Neurobiol Aging. 2014 May;35(5):1189-97. doi: 10.1016/j.neurobiolaging.2013.11.009. Epub 2013 Nov 16.

11.

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.

12.

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.

Hall D, Tassone F, Klepitskaya O, Leehey M.

Mov Disord. 2012 Feb;27(2):296-300. doi: 10.1002/mds.24021. Epub 2011 Dec 11.

13.

Identification of FXTAS presenting with SCA 12 like phenotype in India.

Faruq M, Srivastava AK, Suroliya V, Kumar D, Garg A, Shukla G, Behari M.

Parkinsonism Relat Disord. 2014 Oct;20(10):1089-93. doi: 10.1016/j.parkreldis.2014.07.001. Epub 2014 Jul 17.

PMID:
25085749
14.

[Fragile X-associated tremor/ataxia syndrome].

Lisik M.

Neurol Neurochir Pol. 2005 May-Jun;39(3):226-9. Review. Polish.

PMID:
15981162
15.

A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.

Hagerman PJ, Greco CM, Hagerman RJ.

Cytogenet Genome Res. 2003;100(1-4):206-12. Review.

PMID:
14526182
16.

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome.

Alvarez-Mora MI, Rodriguez-Revenga L, Feliu A, Badenas C, Madrigal I, Milà M.

Neurodegener Dis. 2016;16(3-4):290-2. doi: 10.1159/000441566. Epub 2015 Nov 27.

PMID:
26609701
17.

Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation.

Wang JY, Hessl D, Hagerman RJ, Simon TJ, Tassone F, Ferrer E, Rivera SM.

Neurobiol Aging. 2017 Jul;55:11-19. doi: 10.1016/j.neurobiolaging.2017.03.018. Epub 2017 Mar 18.

PMID:
28391068
18.

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia.

Van Esch H, Dom R, Bex D, Salden I, Caeckebeke J, Wibail A, Borghgraef M, Legius E, Fryns JP, Matthijs G.

Eur J Hum Genet. 2005 Jan;13(1):121-3.

19.

Carriage of One or Two FMR1 Premutation Alleles Seems to Have No Effect on Illness Severity in a FXTAS Female with an Autozygous FMR1 Premutation Allele.

Rodriguez-Revenga L, Pagonabarraga J, Gómez-Anson B, López-Mourelo O, Izquierdo S, Alvarez-Mora MI, Granell E, Madrigal I, Milà M.

Cerebellum. 2016 Oct;15(5):570-7. doi: 10.1007/s12311-016-0783-z.

PMID:
27315125
20.

Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers.

Liu Y, Winarni TI, Zhang L, Tassone F, Hagerman RJ.

Clin Genet. 2013 Jul;84(1):74-7. doi: 10.1111/cge.12026. Epub 2012 Oct 17.

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