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Results: 1 to 20 of 116

1.

Abnormal GABA-mediated and cerebellar inhibition in women with the fragile X premutation.

Conde V, Palomar FJ, Lama MJ, Martínez R, Carrillo F, Pintado E, Mir P.

J Neurophysiol. 2013 Mar;109(5):1315-22. doi: 10.1152/jn.00730.2012. Epub 2012 Dec 12.

PMID:
23236003
[PubMed - indexed for MEDLINE]
Free Article
2.

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
3.

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome.

Hashimoto R, Javan AK, Tassone F, Hagerman RJ, Rivera SM.

Brain. 2011 Mar;134(Pt 3):863-78. doi: 10.1093/brain/awq368.

PMID:
21354978
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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]
5.

Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene.

Hashimoto R, Srivastava S, Tassone F, Hagerman RJ, Rivera SM.

Mov Disord. 2011 Jun;26(7):1329-36. doi: 10.1002/mds.23646. Epub 2011 Apr 11.

PMID:
21484870
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation.

Kraan CM, Hocking DR, Georgiou-Karistianis N, Metcalfe SA, Archibald AD, Fielding J, Trollor J, Bradshaw JL, Cohen J, Cornish KM.

Behav Brain Res. 2013 Sep 15;253:329-36. doi: 10.1016/j.bbr.2013.07.033. Epub 2013 Jul 27.

PMID:
23896050
[PubMed - indexed for MEDLINE]
8.

Amygdala dysfunction in men with the fragile X premutation.

Hessl D, Rivera S, Koldewyn K, Cordeiro L, Adams J, Tassone F, Hagerman PJ, Hagerman RJ.

Brain. 2007 Feb;130(Pt 2):404-16. Epub 2006 Dec 12.

PMID:
17166860
[PubMed - indexed for MEDLINE]
Free Article
9.

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, Tassone F.

Arch Neurol. 2009 Feb;66(2):244-9. doi: 10.1001/archneurol.2008.548.

PMID:
19204162
[PubMed - indexed for MEDLINE]
10.

Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.

Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ.

AJNR Am J Neuroradiol. 2002 Nov-Dec;23(10):1757-66.

PMID:
12427636
[PubMed - indexed for MEDLINE]
Free Article
11.

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]
12.

Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.

García-Alegría E, Ibáñez B, Mínguez M, Poch M, Valiente A, Sanz-Parra A, Martinez-Bouzas C, Beristain E, Tejada MI.

RNA. 2007 May;13(5):756-62.

PMID:
17449730
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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]
14.

Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS).

D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, De Deyn PP, Hassan BA, Kooy RF.

Brain Res. 2009 Feb 9;1253:176-83. doi: 10.1016/j.brainres.2008.11.075. Epub 2008 Dec 3.

PMID:
19070606
[PubMed - indexed for MEDLINE]
15.

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.

Basuta K, Narcisa V, Chavez A, Kumar M, Gane L, Hagerman R, Tassone F.

Am J Med Genet A. 2011 Mar;155A(3):519-25. doi: 10.1002/ajmg.a.33446. Epub 2011 Feb 22.

PMID:
21344625
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The Fragile X premutation: new insights and clinical consequences.

Van Esch H.

Eur J Med Genet. 2006 Jan-Feb;49(1):1-8. Epub 2005 Dec 5. Review.

PMID:
16473304
[PubMed - indexed for MEDLINE]
17.

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]
18.

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]
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.

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K.

Gene. 2007 Jun 15;395(1-2):125-34. Epub 2007 Mar 16.

PMID:
17442505
[PubMed - indexed for MEDLINE]
Free PMC Article

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