Joana Rita Chora
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Explore the profile of Joana Rita Chora including associated specialties, affiliations and a list of published articles.
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10
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87
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Recent Articles
1.
Chora J, Alves A, Mariano C, Rato Q, Antunes M, Bourbon M
J Clin Med
. 2024 Nov;
13(22).
PMID: 39598108
: Incidence of cardiovascular disease (CVD) is increasing in low- and middle-income countries because of changing lifestyles. Since dyslipidaemia is a major independent cardiovascular risk factor, its correct identification is...
2.
Barkas F, Sener Y, Golforoush P, Kheirkhah A, Rodriguez-Sanchez E, Novak J, et al.
Atherosclerosis
. 2024 Jun;
395:117579.
PMID: 38824844
Atherosclerotic cardiovascular disease (ASCVD) remains a leading cause of morbidity and mortality worldwide, highlighting the urgent need for advancements in risk assessment and management strategies. Although significant progress has been...
3.
Medeiros A, Alves A, Miranda B, Chora J, Bourbon M
J Lipid Res
. 2023 Dec;
65(2):100490.
PMID: 38122934
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5,...
4.
Albuquerque J, Medeiros A, Alves A, Jannes C, Mancina R, Pavanello C, et al.
Atherosclerosis
. 2023 Oct;
383:117314.
PMID: 37813054
Background And Aims: The early diagnosis of familial hypercholesterolaemia is associated with a significant reduction in cardiovascular disease (CVD) risk. While the recent use of statistical and machine learning algorithms...
5.
Latkovskis G, Rescenko-Krums R, Nesterovics G, Briviba M, Saripo V, Gilis D, et al.
J Clin Med
. 2023 Aug;
12(15).
PMID: 37568561
Background: There is limited data on the genetic characteristics of patients with familial hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian Registry of...
6.
Chora J, Bourbon M
Curr Opin Lipidol
. 2021 Feb;
32(2):96-102.
PMID: 33591029
Purpose Of Review: To collect evidence on statin pharmacogenomics, and review what is known in this field for familial hypercholesterolemia (FH) patients. Recent Findings: There are well-known associations between specific...
7.
Mariano C, Alves A, Medeiros A, Chora J, Antunes M, Futema M, et al.
Clin Genet
. 2020 Jan;
97(3):457-466.
PMID: 31893465
Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low-density lipoprotein cholesterol (LDL-C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is...
8.
Chora J, Medeiros A, Alves A, Bourbon M
Genet Med
. 2017 Dec;
20(6):591-598.
PMID: 29261184
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. Although more than 1,700 variants have been associated with FH, the great majority have not...
9.
Chora J, Alves A, Medeiros A, Mariano C, Lobarinhas G, Guerra A, et al.
J Clin Lipidol
. 2017 May;
11(2):477-484.e2.
PMID: 28502505
Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA...
10.
Chora J, Simoes-Teixeira H, Matos T, Martins J, Alves M, Ferreira R, et al.
Case Rep Genet
. 2012 Oct;
2012:623860.
PMID: 23074689
Individual's hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the...