Detalhe da pesquisa
1.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Nature
; 603(7899): 131-137, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35197628
2.
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes.
Development
; 150(8)2023 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37102702
3.
Mary Frances Lyon (19252014).
Cell
; 160(4): 577-8, 2015 Feb 12.
Artigo
Inglês
| MEDLINE | ID: mdl-25823359
4.
TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Neurobiol Dis
; 193: 106437, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38367882
5.
A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome.
Development
; 148(18)2021 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33712441
6.
Genetic Mapping of APP and Amyloid-ß Biology Modulation by Trisomy 21.
J Neurosci
; 42(33): 6453-6468, 2022 08 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35835549
7.
Investigating brain alterations in the Dp1Tyb mouse model of Down syndrome.
Neurobiol Dis
; 188: 106336, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-38317803
8.
Mouse models of aneuploidy to understand chromosome disorders.
Mamm Genome
; 33(1): 157-168, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34719726
9.
Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs.
Methods
; 191: 15-22, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32721467
10.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Nucleic Acids Res
; 48(12): 6889-6905, 2020 07 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32479602
11.
A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits.
Mamm Genome
; 32(2): 94-103, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33713180
12.
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.
PLoS Genet
; 14(5): e1007383, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29746474
13.
Substantially thinner internal granular layer and reduced molecular layer surface in the cerebellar cortex of the Tc1 mouse model of down syndrome - a comprehensive morphometric analysis with active staining contrast-enhanced MRI.
Neuroimage
; 223: 117271, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32835824
14.
DYNLRB1 is essential for dynein mediated transport and neuronal survival.
Neurobiol Dis
; 140: 104816, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32088381
15.
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome.
Nat Rev Neurosci
; 16(9): 564-74, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26243569
16.
Uses for humanised mouse models in precision medicine for neurodegenerative disease.
Mamm Genome
; 30(7-8): 173-191, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31203387
17.
Trisomy of human chromosome 21 enhances amyloid-ß deposition independently of an extra copy of APP.
Brain
; 141(8): 2457-2474, 2018 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29945247
18.
A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to ß-Cell Mitochondrial Dysfunction in Type 2 Diabetes.
PLoS Genet
; 12(5): e1006033, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27195491
19.
Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.
Hum Mol Genet
; 25(2): 291-307, 2016 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26604141
20.
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Brain
; 140(11): 2797-2805, 2017 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29053787