Detalhe da pesquisa
1.
Genetic Polymorphisms of P2RX7 but Not of ADORA2A Are Associated with the Severity of SARS-CoV-2 Infection.
Int J Mol Sci
; 25(11)2024 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38892324
2.
Characterization of Progranulin Gene Mutations in Portuguese Patients with Frontotemporal Dementia.
Int J Mol Sci
; 25(1)2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203682
3.
NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.
Neurogenetics
; 23(1): 1-9, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851492
4.
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.
Neurogenetics
; 23(4): 279-283, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36114914
5.
Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes.
Eur J Neurol
; 29(5): 1524-1528, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35020242
6.
Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia.
Eur J Neurol
; 29(1): 36-46, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375485
7.
SERPINA1 modulates expression of amyloidogenic transthyretin.
Exp Cell Res
; 395(2): 112217, 2020 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32768500
8.
In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis.
Int J Mol Sci
; 22(17)2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502397
9.
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study.
Muscle Nerve
; 59(3): 362-365, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30447080
10.
Increased CSF tau is associated with a higher risk of seizures in patients with Alzheimer's disease.
Epilepsy Behav
; 98(Pt A): 207-209, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31382178
11.
Uncovering the Neuroprotective Mechanisms of Curcumin on Transthyretin Amyloidosis.
Int J Mol Sci
; 20(6)2019 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30875761
12.
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Acta Neuropathol
; 134(3): 475-487, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28447221
13.
Rare Variants in PLD3 Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort.
Hum Mutat
; 36(12): 1226-35, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411346
14.
Dietary curcumin counteracts extracellular transthyretin deposition: insights on the mechanism of amyloid inhibition.
Biochim Biophys Acta
; 1832(1): 39-45, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23069388
15.
Progranulin peripheral levels as a screening tool for the identification of subjects with progranulin mutations in a Portuguese cohort.
Neurodegener Dis
; 13(4): 214-23, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022032
16.
Towards a neurocognitive profile in familial cerebral cavernous malformations.
Acta Neurol Belg
; 124(1): 49-54, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37392320
17.
SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia.
Parkinsonism Relat Disord
; 123: 106069, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493523
18.
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
19.
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
20.
PITB: A high affinity transthyretin aggregation inhibitor with optimal pharmacokinetic properties.
Eur J Med Chem
; 261: 115837, 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37837673