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Items: 16


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. Epub 2010 Oct 8.


Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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


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.


FMR1-Related Disorders.

Saul RA, Tarleton JC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Jun 16 [updated 2012 Apr 26].


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.


Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.

Muzar Z, Lozano R.

Intractable Rare Dis Res. 2014 Nov;3(4):101-9. doi: 10.5582/irdr.2014.01029. Review.


Fragile X-Associated Tremor/Ataxia Syndrome: From Molecular Pathogenesis to Development of Therapeutics.

Kong HE, Zhao J, Xu S, Jin P, Jin Y.

Front Cell Neurosci. 2017 May 5;11:128. doi: 10.3389/fncel.2017.00128. eCollection 2017. Review.


PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.

Paucar M, Beniaminov S, Paslawski W, Svenningsson P.

Cerebellum. 2016 Oct;15(5):636-40. doi: 10.1007/s12311-016-0793-x. Review.


Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field.

Hunsaker MR.

F1000Res. 2013 Dec 27;2:287. doi: 10.12688/f1000research.2-287.v1. eCollection 2013. Review.


Pathological Effects of the FMR1 CGG-Repeat Polymorphism (5-55 Repeat Numbers): Systematic Review and Meta-Analysis.

Yang W, Fan C, Chen L, Cui Z, Bai Y, Lan F.

Tohoku J Exp Med. 2016 May;239(1):57-66. doi: 10.1620/tjem.239.57. Review.


Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene.

Barasoain M, Barrenetxea G, Huerta I, Télez M, Criado B, Arrieta I.

Genes (Basel). 2016 Dec 13;7(12). pii: E123. Review.


Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.

Usdin K, Kumari D.

Front Genet. 2015 Jun 3;6:192. doi: 10.3389/fgene.2015.00192. eCollection 2015. Review.


Health problems in females carriers of premutation in the FMR1 gene.

Lisik MZ.

Psychiatr Pol. 2017 Oct 29;51(5):899-907. doi: 10.12740/PP/65778. Epub 2017 Oct 29. Review. English, Polish.


Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).

Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, Willemsen R, Usdin K.

J Neurodev Disord. 2014;6(1):26. doi: 10.1186/1866-1955-6-26. Epub 2014 Aug 13. Review.


The FMR1 gene, infertility, and reproductive decision-making: a review.

Pastore LM, Johnson J.

Front Genet. 2014 Jul 7;5:195. doi: 10.3389/fgene.2014.00195. eCollection 2014. Review.

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