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Items: 1 to 20 of 458

1.

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
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.

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
4.

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
5.

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.

6.

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.

7.

Neuropsychological findings from older premutation carrier males and their noncarrier siblings from families with fragile X syndrome.

Allen EG, Hunter JE, Rusin M, Juncos J, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL.

Neuropsychology. 2011 May;25(3):404-11. doi: 10.1037/a0021879.

8.

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
9.

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
10.

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.

11.

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.

O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E.

Cerebellum. 2016 Aug;15(4):475-82. doi: 10.1007/s12311-015-0714-4.

PMID:
26298472
12.

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.

13.

Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males.

Birch RC, Hocking DR, Cornish KM, Menant JC, Georgiou-Karistianis N, Godler DE, Wen W, Hackett A, Rogers C, Trollor JN.

Genes Brain Behav. 2015 Mar;14(3):251-9. doi: 10.1111/gbb.12204. Epub 2015 Mar 25.

14.

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
15.

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
16.

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.

17.

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
18.

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

Basuta K, Schneider A, Gane L, Polussa J, Woodruff B, Pretto D, Hagerman R, Tassone F.

Am J Med Genet A. 2015 Sep;167A(9):2154-61. doi: 10.1002/ajmg.a.37125. Epub 2015 Apr 29.

PMID:
25920745
19.

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.

20.

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.

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