Detalhe da pesquisa
1.
Fragile X Syndrome: Lessons Learned and What New Treatment Avenues Are on the Horizon.
Annu Rev Pharmacol Toxicol
; 62: 365-381, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34499526
2.
Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome.
Hum Mol Genet
; 26(14): 2649-2666, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444183
3.
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.
Hum Mol Genet
; 24(17): 4948-57, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26060190
4.
Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.
PLoS Genet
; 10(4): e1004294, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24743386
5.
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases.
Croat Med J
; 58(4): 310-315, 2017 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28857524
6.
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
Hum Mol Genet
; 23(12): 3228-38, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24463622
7.
Expression of an expanded CGG-repeat RNA in a single pair of primary sensory neurons impairs olfactory adaptation in Caenorhabditis elegans.
Hum Mol Genet
; 23(18): 4945-59, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821701
8.
Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.
Genome Res
; 23(1): 121-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064752
9.
Single-locus enrichment without amplification for sequencing and direct detection of epigenetic modifications.
Mol Genet Genomics
; 291(3): 1491-504, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26825750
10.
A Majority of FXTAS Cases Present with Intranuclear Inclusions Within Purkinje Cells.
Cerebellum
; 15(5): 546-51, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108270
11.
Differential increases of specific FMR1 mRNA isoforms in premutation carriers.
J Med Genet
; 52(1): 42-52, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25358671
12.
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion.
J Biol Chem
; 288(19): 13831-41, 2013 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23553633
13.
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone.
Hum Mol Genet
; 21(13): 2923-35, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466801
14.
Signaling defects in iPSC-derived fragile X premutation neurons.
Hum Mol Genet
; 21(17): 3795-805, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22641815
15.
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
EMBO J
; 29(7): 1248-61, 2010 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186122
16.
Phenotypes of hypofrontality in older female fragile X premutation carriers.
Ann Neurol
; 74(2): 275-83, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23686745
17.
Neural substrates of executive dysfunction in fragile X-associated tremor/ataxia syndrome (FXTAS): a brain potential study.
Cereb Cortex
; 23(11): 2657-66, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22918986
18.
FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.
J Mol Diagn
; 26(6): 498-509, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522837
19.
Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome.
Genes (Basel)
; 15(3)2024 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540415
20.
Influence of the fragile X mental retardation (FMR1) gene on the brain and working memory in men with normal FMR1 alleles.
Neuroimage
; 65: 288-98, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063447