Detalhe da pesquisa
1.
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome Res
; 27(1): 165-173, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003435
2.
Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
; 91(12): 1304-1311, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055142
3.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Brain
; 141(10): 2895-2907, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252044
4.
Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size.
Hum Mol Genet
; 25(23): 5069-5082, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798094
5.
Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis.
Eur J Neurosci
; 44(5): 2214-25, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27307215
6.
Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene.
Neuropathol Appl Neurobiol
; 41(5): 601-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25185840
7.
Histone deacetylases (HDACs) in frontotemporal lobar degeneration.
Neuropathol Appl Neurobiol
; 41(2): 245-57, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861260
8.
No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease.
Neuropathol Appl Neurobiol
; 40(7): 844-54, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24861427
9.
Patterns of microglial cell activation in frontotemporal lobar degeneration.
Neuropathol Appl Neurobiol
; 40(6): 686-96, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24117616
10.
Comprehensive and Accurate Molecular Profiling of Breast Cancer through mRNA Expression of ESR1, PGR, ERBB2, MKI67, and a Novel Proliferation Signature.
Diagnostics (Basel)
; 14(3)2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337757
11.
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Neuron
; 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701790
12.
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations.
Brain
; 135(Pt 3): 693-708, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300873
13.
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.
Nature
; 442(7105): 916-9, 2006 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-16862116
14.
C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm.
Sci Rep
; 12(1): 4799, 2022 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314728
15.
Pathological correlates of frontotemporal lobar degeneration in the elderly.
Acta Neuropathol
; 121(3): 365-71, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20978901
16.
The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene.
Acta Neuropathol
; 122(1): 99-110, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21424531
17.
Left hand dystonia as a recurring feature of a family carrying C9ORF72 mutation.
J Neurol Neurosurg Psychiatry
; 87(7): 793-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187722
18.
Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion.
J Neurol Neurosurg Psychiatry
; 87(5): 562-3, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835037
19.
Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.
Brain
; 131(Pt 3): 721-31, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18192287
20.
CRISPR/Cas9 does not facilitate stable expression of long C9orf72 dipeptides in mice.
Neurobiol Aging
; 84: 235.e1-235.e8, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31676125