Detalhe da pesquisa
1.
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Am J Hum Genet
; 111(3): 594-613, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423010
2.
Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD.
EMBO J
; 39(8): e102811, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32175624
3.
A protein quality control pathway regulated by linear ubiquitination.
EMBO J
; 38(9)2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30886048
4.
Long-Duration Progressive Supranuclear Palsy: Clinical Course and Pathological Underpinnings.
Ann Neurol
; 92(4): 637-649, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35872640
5.
Associations of psychiatric disease and ageing with FKBP5 expression converge on superficial layer neurons of the neocortex.
Acta Neuropathol
; 145(4): 439-459, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729133
6.
Single-nucleus chromatin accessibility profiling highlights distinct astrocyte signatures in progressive supranuclear palsy and corticobasal degeneration.
Acta Neuropathol
; 144(4): 615-635, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976433
7.
Seizure prevalence in neurodegenerative diseases-a study of autopsy proven cases.
Eur J Neurol
; 29(1): 12-18, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472165
8.
The relation between tau pathology and granulovacuolar degeneration of neurons.
Neurobiol Dis
; 147: 105138, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069844
9.
The FTD-like syndrome causing TREM2 T66M mutation impairs microglia function, brain perfusion, and glucose metabolism.
EMBO J
; 36(13): 1837-1853, 2017 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28559417
10.
First symptom guides diagnosis and prognosis in neurodegenerative diseases-a retrospective study of autopsy proven cases.
Eur J Neurol
; 28(6): 1801-1811, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662165
11.
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons.
EMBO J
; 35(21): 2350-2370, 2016 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27621269
12.
Poly-glycine-alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3.
Acta Neuropathol
; 139(1): 99-118, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642962
13.
Loss of fragile X mental retardation protein precedes Lewy pathology in Parkinson's disease.
Acta Neuropathol
; 139(2): 319-345, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768670
14.
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS.
Acta Neuropathol
; 140(2): 121-142, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562018
15.
Distribution patterns of tau pathology in progressive supranuclear palsy.
Acta Neuropathol
; 140(2): 99-119, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32383020
16.
Copathology in Progressive Supranuclear Palsy: Does It Matter?
Mov Disord
; 35(6): 984-993, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125724
17.
Clinical Conditions "Suggestive of Progressive Supranuclear Palsy"-Diagnostic Performance.
Mov Disord
; 35(12): 2301-2313, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32914550
18.
Validation of the movement disorder society criteria for the diagnosis of 4-repeat tauopathies.
Mov Disord
; 35(1): 171-176, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31571273
19.
Early defects in translation elongation factor 1α levels at excitatory synapses in α-synucleinopathy.
Acta Neuropathol
; 138(6): 971-986, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451907
20.
How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy.
Mov Disord
; 34(8): 1228-1232, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30884545