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Items: 1 to 20 of 42

1.

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R.

J Neurochem. 2008 Dec;107(6):1671-82. doi: 10.1111/j.1471-4159.2008.05747.x. Epub 2008 Nov 10.

2.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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

3.

Mouse models of fragile X-associated tremor ataxia.

Berman RF, Willemsen R.

J Investig Med. 2009 Dec;57(8):837-41. doi: 10.2310/JIM.0b013e3181af59d6. Review.

4.

What has been learned from mouse models of the Fragile X Premutation and Fragile X-associated tremor/ataxia syndrome?

Foote MM, Careaga M, Berman RF.

Clin Neuropsychol. 2016 Aug;30(6):960-72. doi: 10.1080/13854046.2016.1158254. Epub 2016 Jun 29. Review.

5.

The FMR1 gene and fragile X-associated tremor/ataxia syndrome.

Brouwer JR, Willemsen R, Oostra BA.

Am J Med Genet B Neuropsychiatr Genet. 2009 Sep 5;150B(6):782-98. doi: 10.1002/ajmg.b.30910. Review.

6.

CGG repeat in the FMR1 gene: size matters.

Willemsen R, Levenga J, Oostra BA.

Clin Genet. 2011 Sep;80(3):214-25. doi: 10.1111/j.1399-0004.2011.01723.x. Epub 2011 Jun 30. Review.

7.

[Chromatin changes caused by CGG repeat expansion in fmr1 gene].

Yudkin DV, Lemskaya NA, Grischenko IV, Dolskiy AA.

Mol Biol (Mosk). 2015 Mar-Apr;49(2):205-11. Review. Russian.

8.

Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome.

Raske C, Hagerman PJ.

J Investig Med. 2009 Dec;57(8):825-9. doi: 10.2310/JIM.0b013e3181be329a. Review.

9.

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.

Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK.

J Neurodev Disord. 2014;6(1):25. doi: 10.1186/1866-1955-6-25. Epub 2014 Jul 30. Review.

10.

FMR1: a gene with three faces.

Oostra BA, Willemsen R.

Biochim Biophys Acta. 2009 Jun;1790(6):467-77. doi: 10.1016/j.bbagen.2009.02.007. Epub 2009 Feb 21. Review.

11.

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
12.

Molecular Pathophysiology of Fragile X-Associated Tremor/Ataxia Syndrome and Perspectives for Drug Development.

Botta-Orfila T, Tartaglia GG, Michalon A.

Cerebellum. 2016 Oct;15(5):599-610. doi: 10.1007/s12311-016-0800-2. Review.

PMID:
27277287
13.

Fragile X premutation carriers: A systematic review of neuroimaging findings.

Brown SS, Stanfield AC.

J Neurol Sci. 2015 May 15;352(1-2):19-28. doi: 10.1016/j.jns.2015.03.031. Epub 2015 Mar 27. Review.

PMID:
25847019
14.

A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.

Hagerman PJ, Greco CM, Hagerman RJ.

Cytogenet Genome Res. 2003;100(1-4):206-12. Review.

PMID:
14526182
15.

Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice.

Foote M, Arque G, Berman RF, Santos M.

Cerebellum. 2016 Oct;15(5):611-22. doi: 10.1007/s12311-016-0797-6. Review.

PMID:
27255703
16.

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome.

Hagerman R, Hagerman P.

Lancet Neurol. 2013 Aug;12(8):786-98. doi: 10.1016/S1474-4422(13)70125-X. Review.

17.

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
18.

Fragile X syndrome: From protein function to therapy.

Bagni C, Oostra BA.

Am J Med Genet A. 2013 Nov;161A(11):2809-21. doi: 10.1002/ajmg.a.36241. Epub 2013 Sep 24. Review.

PMID:
24115651
19.

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Peprah E.

Ann Hum Genet. 2012 Mar;76(2):178-91. doi: 10.1111/j.1469-1809.2011.00694.x. Epub 2011 Dec 21. Review.

20.

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.

Coffee B, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST.

Am J Med Genet A. 2008 May 15;146A(10):1358-67. doi: 10.1002/ajmg.a.32261. Review.

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