Detalhe da pesquisa
1.
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Hum Mutat
; 38(3): 297-309, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008748
2.
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
3.
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
4.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
Hum Mutat
; 34(2): 363-73, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23111906
5.
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Acta Neuropathol
; 126(6): 881-93, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24132570
6.
Rescue of progranulin deficiency associated with frontotemporal lobar degeneration by alkalizing reagents and inhibition of vacuolar ATPase.
J Neurosci
; 31(5): 1885-94, 2011 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-21289198
7.
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
J Neurol Neurosurg Psychiatry
; 88(11): 996-997, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365590
8.
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
9.
Serum biomarker for progranulin-associated frontotemporal lobar degeneration.
Ann Neurol
; 65(5): 603-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19288468
10.
The Genetics of C9orf72 Expansions.
Cold Spring Harb Perspect Med
; 8(4)2018 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130313
11.
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Neurobiol Aging
; 62: 245.e1-245.e7, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146049
12.
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
13.
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
14.
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
15.
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.
Brain
; 129(Pt 11): 2977-83, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16921174
16.
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
17.
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
18.
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.
Sci Rep
; 6: 20877, 2016 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26869068
19.
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Neurology
; 85(24): 2116-25, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26581300
20.
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.
Neurobiol Aging
; 35(3): 726.e11-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119542