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Items: 1 to 20 of 22

1.

A mouse model of the human Fragile X syndrome I304N mutation.

Zang JB, Nosyreva ED, Spencer CM, Volk LJ, Musunuru K, Zhong R, Stone EF, Yuva-Paylor LA, Huber KM, Paylor R, Darnell JC, Darnell RB.

PLoS Genet. 2009 Dec;5(12):e1000758. doi: 10.1371/journal.pgen.1000758. Epub 2009 Dec 11.

2.

A decade of molecular studies of fragile X syndrome.

O'Donnell WT, Warren ST.

Annu Rev Neurosci. 2002;25:315-38. Epub 2002 Mar 20. Review.

PMID:
12052912
3.

Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis.

De Rubeis S, Fernández E, Buzzi A, Di Marino D, Bagni C.

Adv Exp Med Biol. 2012;970:517-51. doi: 10.1007/978-3-7091-0932-8_23. Review.

PMID:
22351071
4.

Fragile X syndrome.

Garber KB, Visootsak J, Warren ST.

Eur J Hum Genet. 2008 Jun;16(6):666-72. doi: 10.1038/ejhg.2008.61. Epub 2008 Apr 9. Review.

5.

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
6.

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.

7.
8.

Understanding fragile X syndrome: insights from animal models.

Bakker CE, Oostra BA.

Cytogenet Genome Res. 2003;100(1-4):111-23. Review.

PMID:
14526171
9.

Translational endpoints in fragile X syndrome.

de Esch CE, Zeidler S, Willemsen R.

Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:256-69. doi: 10.1016/j.neubiorev.2013.10.012. Epub 2013 Oct 30. Review.

PMID:
24184744
10.

Metabotropic glutamate receptors and fragile x mental retardation protein: partners in translational regulation at the synapse.

Ronesi JA, Huber KM.

Sci Signal. 2008 Feb 5;1(5):pe6. doi: 10.1126/stke.15pe6. Review.

PMID:
18272470
11.

The pathophysiology of fragile x syndrome.

Penagarikano O, Mulle JG, Warren ST.

Annu Rev Genomics Hum Genet. 2007;8:109-29. Review.

PMID:
17477822
12.

Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function.

Bassell GJ, Warren ST.

Neuron. 2008 Oct 23;60(2):201-14. doi: 10.1016/j.neuron.2008.10.004. Review.

13.

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.

14.

Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us.

Santos AR, Kanellopoulos AK, Bagni C.

Learn Mem. 2014 Sep 16;21(10):543-55. doi: 10.1101/lm.035956.114. Print 2014 Oct. Review.

15.

BDNF in fragile X syndrome.

Castrén ML, Castrén E.

Neuropharmacology. 2014 Jan;76 Pt C:729-36. doi: 10.1016/j.neuropharm.2013.05.018. Epub 2013 May 29. Review.

PMID:
23727436
16.

Unstable mutations in the FMR1 gene and the phenotypes.

Loesch D, Hagerman R.

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

17.

Fragile X mental retardation protein in learning-related synaptic plasticity.

Mercaldo V, Descalzi G, Zhuo M.

Mol Cells. 2009 Dec 31;28(6):501-7. doi: 10.1007/s10059-009-0193-x. Epub 2009 Dec 23. Review.

18.

Biology of the fragile X mental retardation protein, an RNA-binding protein.

Khandjian EW.

Biochem Cell Biol. 1999;77(4):331-42. Review.

PMID:
10546896
19.
20.

The state of synapses in fragile X syndrome.

Pfeiffer BE, Huber KM.

Neuroscientist. 2009 Oct;15(5):549-67. doi: 10.1177/1073858409333075. Epub 2009 Mar 26. Review.

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