Search details
1.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36436516
2.
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.
Clin Genet
; 104(4): 479-485, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37243399
3.
Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model of Niemann-Pick Type C1.
Int J Mol Sci
; 24(7)2023 Mar 25.
Article
in English
| MEDLINE | ID: mdl-37047194
4.
Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility.
J Headache Pain
; 24(1): 78, 2023 Jun 29.
Article
in English
| MEDLINE | ID: mdl-37380951
5.
Comparison of East-Asia and West-Europe cohorts explains disparities in survival outcomes and highlights predictive biomarkers of early gastric cancer aggressiveness.
Int J Cancer
; 150(5): 868-880, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34751446
6.
A review of migraine genetics: gathering genomic and transcriptomic factors.
Hum Genet
; 141(1): 1-14, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34686893
7.
Lumbosacral transitional vertebrae: prevalence in a southern European population and its association with low back pain.
Eur Spine J
; 31(12): 3647-3653, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36208322
8.
Tuberculosis in the intensive care unit: alternative treatment regimens and association with mortality.
Trop Med Int Health
; 26(1): 111-114, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33159399
9.
Cellular clearance of circulating transthyretin decreases cell-nonautonomous proteotoxicity in Caenorhabditis elegans.
Proc Natl Acad Sci U S A
; 115(33): E7710-E7719, 2018 08 14.
Article
in English
| MEDLINE | ID: mdl-30061394
10.
A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.
J Headache Pain
; 22(1): 57, 2021 Jun 14.
Article
in English
| MEDLINE | ID: mdl-34126933
11.
Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients.
Ann Neurol
; 85(2): 251-258, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30615214
12.
Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study.
Headache
; 60(10): 2152-2165, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32979221
13.
mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.
J Neurol Neurosurg Psychiatry
; 89(3): 300-304, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29018163
14.
Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M.
J Neurol Neurosurg Psychiatry
; 85(3): 326-30, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24046394
15.
Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.
Cephalalgia
; 34(12): 1015-20, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24646837
16.
Sit4 Genetically Interacts with Vps27 to Regulate Mitochondrial Function and Lifespan in Saccharomyces cerevisiae.
Cells
; 13(8)2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38667270
17.
Vertical Dentofacial Skeletal Divergency Is Not Linked with Oral Health-Related Quality of Life.
J Clin Med
; 13(3)2024 Jan 24.
Article
in English
| MEDLINE | ID: mdl-38337358
18.
Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease.
Brief Funct Genomics
; 23(2): 138-149, 2024 Mar 20.
Article
in English
| MEDLINE | ID: mdl-37254524
19.
The Visual Impairment of Inherited Retinal Diseases in Portugal as per the National Table of Disabilities.
Ophthalmol Sci
; 4(3): 100443, 2024.
Article
in English
| MEDLINE | ID: mdl-38304608
20.
The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Orphanet J Rare Dis
; 19(1): 151, 2024 Apr 09.
Article
in English
| MEDLINE | ID: mdl-38594754