Detalhe da pesquisa
1.
Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription.
Cell
; 178(5): 1159-1175.e17, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442405
2.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell
; 172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474920
3.
Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.
Cell
; 167(2): 293-297, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27716498
4.
Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis.
Cell
; 164(3): 460-75, 2016 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-26824657
5.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Genes Dev
; 37(19-20): 883-900, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890975
6.
Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.
Cell
; 160(6): 1087-98, 2015 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25768905
7.
Parkinson's Disease Genetics and Pathophysiology.
Annu Rev Neurosci
; 44: 87-108, 2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34236893
8.
From anatomy to electrophysiology: clinical Lasker goes deep.
Cell
; 158(6): 1225-1229, 2014 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25215480
9.
Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions.
Genes Dev
; 35(7-8): 489-494, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737384
10.
miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.
Genes Dev
; 34(17-18): 1147-1160, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763910
11.
Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.
Nature
; 592(7855): 596-600, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33762729
12.
Literature-based predictions of Mendelian disease therapies.
Am J Hum Genet
; 110(10): 1661-1672, 2023 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741276
13.
Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.
EMBO J
; 40(7): e106106, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709453
14.
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074918
15.
Insufficient Evidence for "Autism-Specific" Genes.
Am J Hum Genet
; 106(5): 587-595, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32359473
16.
Coexpression enrichment analysis at the single-cell level reveals convergent defects in neural progenitor cells and their cell-type transitions in neurodevelopmental disorders.
Genome Res
; 30(6): 835-848, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32554779
17.
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Mol Ther
; 30(7): 2416-2428, 2022 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585789
18.
Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Hum Mol Genet
; 29(3): 459-470, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943016
19.
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Hum Mol Genet
; 29(5): 705-715, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600777
20.
Beta-binomial modeling of CRISPR pooled screen data identifies target genes with greater sensitivity and fewer false negatives.
Genome Res
; 29(6): 999-1008, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015259