Detalhe da pesquisa
1.
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Acta Neuropathol
; 144(3): 437-464, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876881
2.
Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis.
J Pathol
; 251(3): 262-271, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391572
3.
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy.
PLoS Genet
; 13(4): e1006744, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28426667
4.
Local volume fraction distributions of axons, astrocytes, and myelin in deep subcortical white matter.
Neuroimage
; 179: 275-287, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29933040
5.
Spinal muscular atrophy: Factors that modulate motor neurone vulnerability.
Neurobiol Dis
; 102: 11-20, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28161391
6.
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.
Hum Mol Genet
; 24(23): 6640-52, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26376862
7.
Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Neuropathology
; 36(2): 125-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26303227
8.
Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.
Neuropathol Appl Neurobiol
; 41(2): 201-26, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24750211
9.
Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.
Acta Neuropathol
; 130(1): 63-75, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943887
10.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Neuropathol Appl Neurobiol
; 40(6): 670-85, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24750229
11.
TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.
Acta Neuropathol
; 127(3): 407-18, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24442578
12.
Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72.
J Neurol Neurosurg Psychiatry
; 84(1): 79-87, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23085936
13.
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Brain
; 135(Pt 3): 751-64, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366792
14.
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Brain Pathol
; 33(1): e13104, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871544
15.
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Front Aging Neurosci
; 15: 1151848, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251807
16.
Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology.
Acta Neuropathol
; 122(6): 657-71, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105541
17.
Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis.
Front Neurosci
; 15: 783624, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002606
18.
Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis.
Neurogenetics
; 11(2): 217-25, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19760257
19.
TIGAR inclusion pathology is specific for Lewy body diseases.
Brain Res
; 1706: 218-223, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30267647
20.
Quantitative histomorphometry of capillary microstructure in deep white matter.
Neuroimage Clin
; 23: 101839, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31078937