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Items: 1 to 20 of 98

1.

Fragile X gene expansions are not associated with dementia.

Hall DA, Bennett DA, Filley CM, Shah RC, Kluger B, Ouyang B, Berry-Kravis E.

Neurobiol Aging. 2014 Nov;35(11):2637-8. doi: 10.1016/j.neurobiolaging.2014.04.027.

2.

FMR1 gray-zone alleles: association with Parkinson's disease in women?

Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA.

Mov Disord. 2011 Aug 15;26(10):1900-6. doi: 10.1002/mds.23755.

3.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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

4.

Altered neural activity in the 'when' pathway during temporal processing in fragile X premutation carriers.

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

Behav Brain Res. 2014 Mar 15;261:240-8. doi: 10.1016/j.bbr.2013.12.044.

5.

Immune dysregulation as a cause of autoinflammation in fragile X premutation carriers: link between FMRI CGG repeat number and decreased cytokine responses.

Careaga M, Rose D, Tassone F, Berman RF, Hagerman R, Ashwood P.

PLoS One. 2014 Apr 9;9(4):e94475. doi: 10.1371/journal.pone.0094475.

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.

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C.

Prenat Diagn. 2011 Oct;31(10):925-31. doi: 10.1002/pd.2815.

PMID:
21717484
8.

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.

Loesch DZ, Godler DE, Evans A, Bui QM, Gehling F, Kotschet KE, Trost N, Storey E, Stimpson P, Kinsella G, Francis D, Thorburn DR, Venn A, Slater HR, Horne M.

Genet Med. 2011 May;13(5):392-9. doi: 10.1097/GIM.0b013e3182064362.

9.

A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

Lorefice L, Tranquilli S, Fenu G, Murru MR, Frau J, Rolesu M, Coghe GC, Marrosu F, Marrosu MG, Cocco E.

Neurol Sci. 2015 Dec;36(12):2213-20. doi: 10.1007/s10072-015-2339-2.

PMID:
26194536
10.

Molecular analysis of fragile X syndrome.

Basehore MJ, Friez MJ.

Curr Protoc Hum Genet. 2014 Jan 21;80:Unit 9.5.. doi: 10.1002/0471142905.hg0905s80.

PMID:
24510684
11.

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.

12.

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.

13.

Validation of a screening tool for the rapid and reliable detection of CGG trinucleotide repeat expansions in FMR1.

Basehore MJ, Marlowe NM, Jones JR, Behlendorf DE, Laver TA, Friez MJ.

Genet Test Mol Biomarkers. 2012 Jun;16(6):465-70. doi: 10.1089/gtmb.2011.0134.

PMID:
22224633
14.

Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.

Cunningham CL, Martínez Cerdeño V, Navarro Porras E, Prakash AN, Angelastro JM, Willemsen R, Hagerman PJ, Pessah IN, Berman RF, Noctor SC.

Hum Mol Genet. 2011 Jan 1;20(1):64-79. doi: 10.1093/hmg/ddq432.

15.

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
16.

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.

17.

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
18.

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.

19.

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.

PMID:
19542082
20.

Transmission of an FMR1 premutation allele in a large family identified through newborn screening: the role of AGG interruptions.

Yrigollen CM, Mendoza-Morales G, Hagerman R, Tassone F.

J Hum Genet. 2013 Aug;58(8):553-9. doi: 10.1038/jhg.2013.50.

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