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Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.

Hagerman RJ, Hagerman P.

Nat Rev Neurol. 2016 Jul;12(7):403-12. doi: 10.1038/nrneurol.2016.82. Review.


Augmented noncanonical BMP type II receptor signaling mediates the synaptic abnormality of fragile X syndrome.

Kashima R, Roy S, Ascano M, Martinez-Cerdeno V, Ariza-Torres J, Kim S, Louie J, Lu Y, Leyton P, Bloch KD, Kornberg TB, Hagerman PJ, Hagerman R, Lagna G, Hata A.

Sci Signal. 2016 Jun 7;9(431):ra58. doi: 10.1126/scisignal.aaf6060.


Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS.

Rogers H, Ariza J, Monterrubio A, Hagerman P, Martínez-Cerdeño V.

Cerebellum. 2016 Oct;15(5):641-4. doi: 10.1007/s12311-016-0798-5.


A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells.

Ariza J, Rogers H, Monterrubio A, Reyes-Miranda A, Hagerman PJ, Martínez-Cerdeño V.

Cerebellum. 2016 Oct;15(5):546-51. doi: 10.1007/s12311-016-0776-y.


Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications.

Pham TT, Yin J, Eid JS, Adams E, Lam R, Turner SW, Loomis EW, Wang JY, Hagerman PJ, Hanes JW.

Mol Genet Genomics. 2016 Jun;291(3):1491-504. doi: 10.1007/s00438-016-1167-2.


Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Hukema RK, Buijsen RA, Schonewille M, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Verhagen RF, van Dessel L, Maas A, Charlet-Berguerand N, De Zeeuw CI, Hagerman PJ, Berman RF, Willemsen R.

Hum Mol Genet. 2015 Sep 1;24(17):4948-57. doi: 10.1093/hmg/ddv216.


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. Review.


Dysregulated iron metabolism in the choroid plexus in fragile X-associated tremor/ataxia syndrome.

Ariza J, Steward C, Rueckert F, Widdison M, Coffman R, Afjei A, Noctor SC, Hagerman R, Hagerman P, Martínez-Cerdeño V.

Brain Res. 2015 Feb 19;1598:88-96. doi: 10.1016/j.brainres.2014.11.058.


Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.

Hukema RK, Buijsen RA, Raske C, Severijnen LA, Nieuwenhuizen-Bakker I, Minneboo M, Maas A, de Crom R, Kros JM, Hagerman PJ, Berman RF, Willemsen R.

Cell Cycle. 2014;13(16):2600-8. doi: 10.4161/15384101.2014.943112.


Differential increases of specific FMR1 mRNA isoforms in premutation carriers.

Pretto DI, Eid JS, Yrigollen CM, Tang HT, Loomis EW, Raske C, Durbin-Johnson B, Hagerman PJ, Tassone F.

J Med Genet. 2015 Jan;52(1):42-52. doi: 10.1136/jmedgenet-2014-102593.


Clinical and molecular implications of mosaicism in FMR1 full mutations.

Pretto D, Yrigollen CM, Tang HT, Williamson J, Espinal G, Iwahashi CK, Durbin-Johnson B, Hagerman RJ, Hagerman PJ, Tassone F.

Front Genet. 2014 Sep 17;5:318. doi: 10.3389/fgene.2014.00318.


Fragile x premutation.

Tassone F, Hagerman PJ, Hagerman RJ.

J Neurodev Disord. 2014;6(1):22. doi: 10.1186/1866-1955-6-22.


ERP abnormalities elicited by word repetition in fragile X-associated tremor/ataxia syndrome (FXTAS) and amnestic MCI.

Yang JC, Chi L, Teichholtz S, Schneider A, Nanakul R, Nowacki R, Seritan A, Reed B, DeCarli C, Iragui VJ, Kutas M, Hagerman PJ, Hagerman RJ, Olichney JM.

Neuropsychologia. 2014 Oct;63:34-42. doi: 10.1016/j.neuropsychologia.2014.08.001.


High-throughput screening of FDA-approved drugs using oxygen biosensor plates reveals secondary mitofunctional effects.

Sahdeo S, Tomilov A, Komachi K, Iwahashi C, Datta S, Hughes O, Hagerman P, Cortopassi G.

Mitochondrion. 2014 Jul;17:116-25. doi: 10.1016/j.mito.2014.07.002.


Memantine effects on verbal memory in fragile X-associated tremor/ataxia syndrome (FXTAS): a double-blind brain potential study.

Yang JC, Niu YQ, Simon C, Seritan AL, Chen L, Schneider A, Moghaddam ST, Hagerman PJ, Hagerman RJ, Olichney JM.

Neuropsychopharmacology. 2014 Nov;39(12):2760-8. doi: 10.1038/npp.2014.122.


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.


Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.

Loomis EW, Sanz LA, Chédin F, Hagerman PJ.

PLoS Genet. 2014 Apr 17;10(4):e1004294. doi: 10.1371/journal.pgen.1004294.


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.


Memantine for fragile X-associated tremor/ataxia syndrome: a randomized, double-blind, placebo-controlled trial.

Seritan AL, Nguyen DV, Mu Y, Tassone F, Bourgeois JA, Schneider A, Cogswell JB, Cook KR, Leehey MA, Grigsby J, Olichney JM, Adams PE, Legg W, Zhang L, Hagerman PJ, Hagerman RJ.

J Clin Psychiatry. 2014 Mar;75(3):264-71. doi: 10.4088/JCP.13m08546.


Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome.

Yang JC, Simon C, Schneider A, Seritan AL, Hamilton L, Hagerman PJ, Hagerman RJ, Olichney JM.

Genes Brain Behav. 2014 Feb;13(2):152-62. doi: 10.1111/gbb.12114.

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