Maria do Carmo Macario
Overview
Explore the profile of Maria do Carmo Macario including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
13
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0
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Recent Articles
1.
Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
Simoes M, Santos M, Martins S, Macario M, Duraes J, Diogo L, et al.
Endocr Metab Immune Disord Drug Targets
. 2023 Dec;
PMID: 38111113
Introduction: Mitochondrial oxidative phosphorylation (OXPHOS) diseases are challenging both from clinical and therapeutic perspectives. The advent of next-generation sequencing (NGS) boosted the discovery of new genetic defects affecting OXPHOS, with...
2.
Matos S, Martins A, Jorge A, Macario M, Pereira D, Strupp M, et al.
Pract Neurol
. 2023 Sep;
24(1):51-55.
PMID: 37734945
Positional vertigo poses a diagnostic challenge in people with multiple sclerosis (MS). The characteristics of positional nystagmus and its response to repositioning manoeuvres are usually sufficient to diagnose benign paroxysmal...
3.
Benzoni C, Moscatelli M, Farina L, Magri S, Ciano C, Scaioli V, et al.
J Neurol
. 2023 May;
270(9):4219-4234.
PMID: 37171481
Background: Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by mutations in one of the five EIF2B genes. Adult-onset (AO) cases are rare....
4.
Martins S, Santos M, Teixeira M, Diogo L, Macario M, Marques J, et al.
Mitochondrion
. 2023 Jan;
69:64-70.
PMID: 36716943
Leber's Hereditary Optic Neuropathy (LHON) has been mainly (90-95 %) associated to one of three variants: m.3460G>A, m.11778G>A, m.14484T>C. Herein, a screening method was developed for its detection, supporting clinical/therapeutics...
5.
Foddis M, Blumenau S, Holtgrewe M, Paquette K, Westra K, Alonso I, et al.
Neurobiol Aging
. 2022 Dec;
123:208-215.
PMID: 36586737
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) are the most common forms of rare monogenic early-onset cerebral...
6.
Oliveira A, Martins S, Cammarata G, Martins M, Cardoso A, Almeida M, et al.
Biomedicines
. 2022 Aug;
10(8).
PMID: 36009452
Mutations in granulin () have been associated with neurodegenerative diseases, such as frontotemporal lobar degeneration (FTLD) and neuronal ceroid lipofuscinosis (NCL). In Portugal, mutations account for around half of all...
7.
Salazar I, Lourenco A, Manadas B, Baldeiras I, Ferreira C, Teixeira A, et al.
J Neuroinflammation
. 2022 Feb;
19(1):44.
PMID: 35135578
Background: Multiple sclerosis is an inflammatory and degenerative disease of the central nervous system (CNS) characterized by demyelination and concomitant axonal loss. The lack of a single specific test, and...
8.
Duraes J, Salsano E, Macario M
Neurol Clin Pract
. 2021 May;
11(1):e15-e17.
PMID: 33968482
No abstract available.
9.
Messerschmidt C, Foddis M, Blumenau S, Muller S, Bentele K, Holtgrewe M, et al.
Sci Rep
. 2021 Mar;
11(1):6072.
PMID: 33727568
Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant...
10.
Pereira M, Duraes J, Macario M
Pract Neurol
. 2020 Mar;
20(3):249-252.
PMID: 32161095
No abstract available.