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Items: 1 to 20 of 63


X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.

Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E.

Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb.


A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR.

Suhl JA, Muddashetty RS, Anderson BR, Ifrim MF, Visootsak J, Bassell GJ, Warren ST.

Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):E6553-61. doi: 10.1073/pnas.1514260112. Epub 2015 Nov 9.


Psychosis and catatonia in fragile X: Case report and literature review.

Winarni TI, Schneider A, Ghaziuddin N, Seritan A, Hagerman RJ.

Intractable Rare Dis Res. 2015 Aug;4(3):139-46. doi: 10.5582/irdr.2015.01028.


Neurological and endocrine phenotypes of fragile X carrier women.

Hall D, Todorova-Koteva K, Pandya S, Bernard B, Ouyang B, Walsh M, Pounardjian T, Deburghraeve C, Zhou L, Losh M, Leehey M, Berry-Kravis E.

Clin Genet. 2016 Jan;89(1):60-7. doi: 10.1111/cge.12646. Epub 2015 Sep 4.


Methadone use in a male with the FMRI premutation and FXTAS.

Muzar Z, Lozano R, Schneider A, Adams PE, Faradz SM, Tassone F, Hagerman RJ.

Am J Med Genet A. 2015 Jun;167(6):1354-9. doi: 10.1002/ajmg.a.37030. Epub 2015 Apr 21.


Fragile X-associated tremor/ataxia syndrome.

Hagerman PJ, Hagerman RJ.

Ann N Y Acad Sci. 2015 Mar;1338:58-70. doi: 10.1111/nyas.12693. Epub 2015 Jan 26. Review.


Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases.

Muzar Z, Adams PE, Schneider A, Hagerman RJ, Lozano R.

Intractable Rare Dis Res. 2014 Nov;3(4):162-5. doi: 10.5582/irdr.2014.01023.


Fragile X spectrum disorders.

Lozano R, Rosero CA, Hagerman RJ.

Intractable Rare Dis Res. 2014 Nov;3(4):134-46. doi: 10.5582/irdr.2014.01022. 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.


Rapid throughput analysis demonstrates that chemicals with distinct seizurogenic mechanisms differentially alter Ca2+ dynamics in networks formed by hippocampal neurons in culture.

Cao Z, Zou X, Cui Y, Hulsizer S, Lein PJ, Wulff H, Pessah IN.

Mol Pharmacol. 2015 Apr;87(4):595-605. doi: 10.1124/mol.114.096701. Epub 2015 Jan 12.


Molecular Advances Leading to Treatment Implications for Fragile X Premutation Carriers.

Polussa J, Schneider A, Hagerman R.

Brain Disord Ther. 2014;3. pii: 1000119.


Genomic studies in fragile X premutation carriers.

Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F.

J Neurodev Disord. 2014;6(1):27. doi: 10.1186/1866-1955-6-27. Epub 2014 Jul 30.


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.


CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome.

Galloway JN, Shaw C, Yu P, Parghi D, Poidevin M, Jin P, Nelson DL.

Hum Mol Genet. 2014 Nov 15;23(22):5906-15. doi: 10.1093/hmg/ddu314. Epub 2014 Jun 30.


Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.

Juang BT, Ludwig AL, Benedetti KL, Gu C, Collins K, Morales C, Asundi A, Wittmann T, L'Etoile N, Hagerman PJ.

Hum Mol Genet. 2014 Sep 15;23(18):4945-59. doi: 10.1093/hmg/ddu210. Epub 2014 May 12.


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.


Nanomolar bifenthrin alters synchronous Ca2+ oscillations and cortical neuron development independent of sodium channel activity.

Cao Z, Cui Y, Nguyen HM, Jenkins DP, Wulff H, Pessah IN.

Mol Pharmacol. 2014 Apr;85(4):630-9. doi: 10.1124/mol.113.090076. Epub 2014 Jan 30.


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.


Newborn screening for fragile X syndrome.

Tassone F.

JAMA Neurol. 2014 Mar;71(3):355-9. doi: 10.1001/jamaneurol.2013.4808. Review.


Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome.

Pretto DI, Kumar M, Cao Z, Cunningham CL, Durbin-Johnson B, Qi L, Berman R, Noctor SC, Hagerman RJ, Pessah IN, Tassone F.

Neurobiol Aging. 2014 May;35(5):1189-97. doi: 10.1016/j.neurobiolaging.2013.11.009. Epub 2013 Nov 16.

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