Detalhe da pesquisa
1.
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Cell;
184(3): 689-708.e20, 2021 02 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33482083
2.
Platelet factors attenuate inflammation and rescue cognition in ageing.
Nature;
620(7976): 1071-1079, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37587343
3.
PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions.
Mol Cell;
69(5): 744-756.e6, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29456190
4.
Prednisolone and rapamycin reduce the plasma cell gene signature and may improve AAV gene therapy in cynomolgus macaques.
Gene Ther;
31(3-4): 128-143, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37833563
5.
Evolution of a Human-Specific Tandem Repeat Associated with ALS.
Am J Hum Genet;
107(3): 445-460, 2020 09 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32750315
6.
Age-related loss of neural stem cell O-GlcNAc promotes a glial fate switch through STAT3 activation.
Proc Natl Acad Sci U S A;
117(36): 22214-22224, 2020 09 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32848054
7.
CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity.
Alzheimers Dement;
19(4): 1245-1259, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35993441
8.
A memory of eS25 loss drives resistance phenotypes.
Nucleic Acids Res;
48(13): 7279-7297, 2020 07 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32463448
9.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet;
138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30982135
10.
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons.
Acta Neuropathol;
137(6): 961-980, 2019 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30927072
11.
Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.
PLoS Genet;
10(10): e1004704, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25299611
12.
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Hum Mol Genet;
21(13): 2899-911, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22454397
13.
A yeast functional screen predicts new candidate ALS disease genes.
Proc Natl Acad Sci U S A;
108(52): 20881-90, 2011 Dec 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22065782
14.
Loss of neuronal Tet2 enhances hippocampal-dependent cognitive function.
Cell Rep;
41(6): 111612, 2022 11 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36351399
15.
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders.
Biomedicines;
10(1)2022 Jan 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35052839
16.
Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2.
Cell Rep;
41(4): 111508, 2022 10 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36288714
17.
Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression.
Mol Ther Methods Clin Dev;
24: 292-305, 2022 Mar 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35211641
18.
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Neurol Genet;
8(1): e647, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34901437
19.
Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model.
Nat Commun;
11(1): 3753, 2020 07 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32719333
20.
Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72.
Brain Res;
1728: 146601, 2020 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31843624