Detalhe da pesquisa
1.
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.
Hum Mol Genet
; 30(17): 1632-1648, 2021 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077515
2.
Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.
Hum Mol Genet
; 26(11): 2133-2145, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369393
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.
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Brain
; 137(Pt 5): 1361-73, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722252
5.
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
6.
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Brain
; 135(Pt 3): 723-35, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300876
7.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Acta Neuropathol
; 122(4): 467-79, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785977
8.
Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats.
Nat Commun
; 12(1): 1265, 2021 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33627639
9.
Neuropathology of FMR1-premutation carriers presenting with dementia and neuropsychiatric symptoms.
Brain Commun
; 3(1): fcab007, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709078
10.
In silico, in vitro, and in vivo Approaches to Identify Molecular Players in Fragile X Tremor and Ataxia Syndrome.
Front Mol Biosci
; 7: 31, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219099
11.
Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates.
Front Mol Biosci
; 7: 599101, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381520
12.
Gustatory plasticity in C. elegans involves integration of negative cues and NaCl taste mediated by serotonin, dopamine, and glutamate.
Learn Mem
; 15(11): 829-36, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18984564
13.
Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS.
Mol Ther Nucleic Acids
; 18: 546-553, 2019 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31671347
14.
Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.
J Neuropathol Exp Neurol
; 78(7): 665-670, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31150092
15.
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.
Acta Neuropathol Commun
; 7(1): 27, 2019 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30808398
16.
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.
J Neurochem
; 107(6): 1671-82, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19014369
17.
Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?
Eur J Med Genet
; 61(11): 674-679, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29223504
18.
BC RNA Mislocalization in the Fragile X Premutation.
eNeuro
; 5(2)2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29766042
19.
Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.
Brain Behav
; 8(6): e00991, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785777
20.
An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.
Cell Rep
; 25(12): 3422-3434.e7, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30566867