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Items: 1 to 20 of 358

1.

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.

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.

Altered expression of the FMR1 splicing variants landscape in premutation carriers.

Tseng E, Tang HT, AlOlaby RR, Hickey L, Tassone F.

Biochim Biophys Acta. 2017 Nov;1860(11):1117-1126. doi: 10.1016/j.bbagrm.2017.08.007. Epub 2017 Sep 7.

PMID:
28888471
4.
5.

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
6.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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

7.

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
8.

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.

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
10.

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
11.

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
12.
13.

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. eCollection 2014.

14.

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
15.

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.

Brouwer JR, Mientjes EJ, Bakker CE, Nieuwenhuizen IM, Severijnen LA, Van der Linde HC, Nelson DL, Oostra BA, Willemsen R.

Exp Cell Res. 2007 Jan 15;313(2):244-53. Epub 2006 Oct 13.

16.

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.

17.

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
18.

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.

19.

Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.

Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, Schwartz PH, Hagerman PJ.

Hum Mol Genet. 2005 Dec 1;14(23):3661-71. Epub 2005 Oct 20.

PMID:
16239243
20.

CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.

Ludwig AL, Espinal GM, Pretto DI, Jamal AL, Arque G, Tassone F, Berman RF, Hagerman PJ.

Hum Mol Genet. 2014 Jun 15;23(12):3228-38. doi: 10.1093/hmg/ddu032. Epub 2014 Jan 23.

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