Detalhe da pesquisa
1.
APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology.
Ann Neurol
; 93(4): 830-843, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36546684
2.
Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion.
Acta Neuropathol
; 147(1): 73, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641715
3.
Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations.
Brain
; 145(7): 2472-2485, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918030
4.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
Brain
; 144(4): 1082-1088, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889947
5.
Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies.
Brain
; 143(6): 1905-1919, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504082
6.
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Am J Hum Genet
; 97(3): 465-74, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26279204
7.
In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers.
Acta Neuropathol
; 134(2): 255-269, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28508101
8.
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency.
Hum Mol Genet
; 23(6): 1467-78, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24163244
9.
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
Acta Neuropathol
; 130(6): 863-76, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437865
10.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Acta Neuropathol
; 130(1): 77-92, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943890
11.
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Hum Mutat
; 35(8): 964-71, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24796542
12.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
Acta Neuropathol
; 127(3): 397-406, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385136
13.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Res Ther
; 16(1): 66, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539243
14.
TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia.
J Neurochem
; 126(6): 781-91, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23742080
15.
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
Am J Hum Genet
; 87(6): 890-7, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21087763
16.
Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations.
BMC Genomics
; 12: 527, 2011 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22032330
17.
Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically.
Alzheimer Dis Assoc Disord
; 25(4): 364-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346515
18.
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PLoS Genet
; 4(9): e1000193, 2008 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18802454
19.
De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.
Hum Mutat
; 31(5): E1377-89, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232451
20.
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.
Hum Mol Genet
; 17(23): 3631-42, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18723524