Detalhe da pesquisa
1.
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
Brain
; 146(10): 4055-4064, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37100087
2.
Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging.
Acta Neuropathol
; 145(3): 285-302, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36527486
3.
Correction to: Accumulation of TMEM106B Cterminal fragments in neurodegenerative disease and aging.
Acta Neuropathol
; 145(3): 369-370, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36607424
4.
Limbic-predominant age-related TDP-43 proteinopathy (LATE-NC) is associated with abundant TMEM106B pathology.
Acta Neuropathol
; 146(1): 163-166, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37171635
5.
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.
Brain
; 139(Pt 2): 452-67, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26674655
6.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet
; 51(6): 419-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706941
7.
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
Acta Neuropathol
; 128(3): 397-410, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24899140
8.
Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.
medRxiv
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38633784
9.
TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort.
Brain
; 134(Pt 3): 808-15, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21354975
10.
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Nature
; 442(7105): 920-4, 2006 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-16862115
11.
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
Stroke
; 41(5): 863-8, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20360539
12.
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Hum Mutat
; 30(7): 1054-61, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405094
13.
Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients.
Eur J Hum Genet
; 16(4): 471-9, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18197194
14.
Clinical variability and onset age modifiers in an extended Belgian GRN founder family.
Neurobiol Aging
; 67: 84-94, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29653316
15.
Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia.
Neurobiol Aging
; 66: 181.e3-181.e10, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29555433
16.
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.
Hum Mutat
; 28(4): 416, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17345602
17.
Progranulin null mutations in both sporadic and familial frontotemporal dementia.
Hum Mutat
; 28(9): 846-55, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436289
18.
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
Arch Neurol
; 64(10): 1436-46, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17923627
19.
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.
Brain
; 129(Pt 4): 841-52, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16495329
20.
Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion.
JAMA Neurol
; 74(4): 445-452, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192553