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Results: 1 to 20 of 159

1.

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.

Marek D, Papin S, Ellefsen K, Niederhauser J, Isidor N, Ransijn A, Poupon L, Spertini F, Pantaleo G, Bergmann S, Beckmann JS, Jacquemont S, Tanackovic G.

J Neuroinflammation. 2012 Oct 13;9:238. doi: 10.1186/1742-2094-9-238.

PMID:
23062006
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23753897
[PubMed - indexed for MEDLINE]
3.

FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.

Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1397-402. Epub 2007 Dec 5.

PMID:
18057320
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

Adv Exp Med Biol. 2012;769:78-114. Review.

PMID:
23560306
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS).

Hashimoto R, Backer KC, Tassone F, Hagerman RJ, Rivera SM.

J Psychiatr Res. 2011 Jan;45(1):36-43. doi: 10.1016/j.jpsychires.2010.04.030. Epub 2010 May 31.

PMID:
20537351
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Elevated FMR1 mRNA in premutation carriers is due to increased transcription.

Tassone F, Beilina A, Carosi C, Albertosi S, Bagni C, Li L, Glover K, Bentley D, Hagerman PJ.

RNA. 2007 Apr;13(4):555-62. Epub 2007 Feb 5.

PMID:
17283214
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Size bias of fragile X premutation alleles in late-onset movement disorders.

Jacquemont S, Leehey MA, Hagerman RJ, Beckett LA, Hagerman PJ.

J Med Genet. 2006 Oct;43(10):804-9. Epub 2006 May 24.

PMID:
16723388
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Altered neural activity of magnitude estimation processing in adults with the fragile X premutation.

Kim SY, Hashimoto R, Tassone F, Simon TJ, Rivera SM.

J Psychiatr Res. 2013 Dec;47(12):1909-16. doi: 10.1016/j.jpsychires.2013.08.014. Epub 2013 Sep 2.

PMID:
24045061
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
18348275
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
19864489
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Selective spatial processing deficits in an at-risk subgroup of the fragile X premutation.

Hocking DR, Kogan CS, Cornish KM.

Brain Cogn. 2012 Jun;79(1):39-44. doi: 10.1016/j.bandc.2012.02.005. Epub 2012 Mar 12.

PMID:
22417865
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
22161987
[PubMed - indexed for MEDLINE]
15.

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets FJ, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann JS, Damier P, Jacquemont S.

J Med Genet. 2009 Dec;46(12):818-24. doi: 10.1136/jmg.2008.065953. Epub 2009 Jun 18.

PMID:
19542082
[PubMed - indexed for MEDLINE]
16.

Impact of the Fragile X mental retardation 1 (FMR1) gene premutation on neuropsychiatric functioning in adult males without fragile X-associated Tremor/Ataxia syndrome: a controlled study.

Kogan CS, Turk J, Hagerman RJ, Cornish KM.

Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):859-72. doi: 10.1002/ajmg.b.30685.

PMID:
18165971
[PubMed - indexed for MEDLINE]
17.

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.

Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ.

Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):115-21.

PMID:
16184602
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
Free Article
19.

A neuropsychological investigation of male premutation carriers of fragile X syndrome.

Moore CJ, Daly EM, Schmitz N, Tassone F, Tysoe C, Hagerman RJ, Hagerman PJ, Morris RG, Murphy KC, Murphy DG.

Neuropsychologia. 2004;42(14):1934-47.

PMID:
15381024
[PubMed - indexed for MEDLINE]
20.

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I.

Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19.

PMID:
21639881
[PubMed - indexed for MEDLINE]
Free PMC Article

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