Detalhe da pesquisa
1.
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains.
Acta Neuropathol
; 147(1): 29, 2024 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38308693
2.
TBK1 interacts with tau and enhances neurodegeneration in tauopathy.
J Biol Chem
; 296: 100760, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965374
3.
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Neurobiol Dis
; 149: 105228, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359139
4.
RNA-mediated toxicity in C9orf72 ALS and FTD.
Neurobiol Dis
; 145: 105055, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829028
5.
Divergent FUS phosphorylation in primate and mouse cells following double-strand DNA damage.
Neurobiol Dis
; 146: 105085, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32950644
6.
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
Sci Transl Med
; 16(730): eadf9735, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232138
7.
Single nucleus multiome analysis of the prefrontal cortex from C9orf72 ALS/FTD patients illuminates pathways affected during disease progression.
bioRxiv
; 2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711601
8.
Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
bioRxiv
; 2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747819
9.
Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Sci Adv
; 9(33): eadh0558, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37585521
10.
Altered Behavioral Responses Show GABA Sensitivity in Muscleblind-Like 2-Deficient Mice: Implications for CNS Symptoms in Myotonic Dystrophy.
eNeuro
; 9(5)2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150891
11.
5-hydroxymethylcytosine is dynamically regulated during forebrain organoid development and aberrantly altered in Alzheimer's disease.
Cell Rep
; 35(4): 109042, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910000
12.
Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
Cell Rep
; 35(2): 108991, 2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852833
13.
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Commun Biol
; 3(1): 33, 2020 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959876
14.
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.
Cell Rep
; 31(5): 107616, 2020 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375043
15.
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.
Neuron
; 107(2): 292-305.e6, 2020 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375063
16.
Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.
Methods Mol Biol
; 1382: 399-408, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26611602
17.
A human pluripotent stem cell model of catecholaminergic polymorphic ventricular tachycardia recapitulates patient-specific drug responses.
Dis Model Mech
; 9(9): 927-39, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27491078
18.
Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia.
Mol Neurodegener
; 11(1): 46, 2016 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-27341800
19.
Assessing reproductive toxicity of two environmental toxicants with a novel in vitro human spermatogenic model.
Stem Cell Res
; 14(3): 347-55, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25863443