Wilson Marques Jr
Overview
Explore the profile of Wilson Marques Jr including associated specialties, affiliations and a list of published articles.
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108
Citations
1530
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Recent Articles
1.
Laugwitz L, Buchert R, Olguin P, Estiar M, Atanasova M, Marques Jr W, et al.
Am J Hum Genet
. 2025 Jan;
112(1):168-180.
PMID: 39753114
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic...
2.
Senem I, Foss M, Lavigne-Moreira C, Dos Santos A, de Franca Nunes R, Franca Junior M, et al.
Neurol Sci
. 2024 Nov;
46(3):1349-1358.
PMID: 39499456
Background: Central nervous system symptoms, such as cognitive dysfunction, have been reported in Hereditary Transthyretin Amyloidosis (ATTRv). However, there is a lack of neuroimaging studies investigating structural alterations in the...
3.
Daccach V, Tomaselli P, Algemiro J, Toscano P, Dos Santos A, Frade M, et al.
J Peripher Nerv Syst
. 2024 Aug;
29(3):356-362.
PMID: 39165030
Background And Aims: Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae), an intracellular bacillus that systematically invades the peripheral nerves. Diagnosing leprosy neuropathy is still a...
4.
Romanelli Tavares V, Mendonca R, Toledo M, Hadachi S, Grindler C, Zanoteli E, et al.
Genes (Basel)
. 2024 Jul;
15(7).
PMID: 39062637
In recent years, significant progress has been made in 5q Spinal Muscular Atrophy therapeutics, emphasizing the importance of early diagnosis and intervention for better clinical outcomes. Characterized by spinal cord...
5.
Machado D, Viana C, Pedroso J, Barsottini O, Tomaselli P, Marques Jr W, et al.
Cerebellum
. 2024 Mar;
23(5):1916-1922.
PMID: 38520642
Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA...
6.
Beijer D, Marte S, Li J, De Ridder W, Chen J, Tadenev A, et al.
Brain Commun
. 2024 Mar;
6(2):fcae070.
PMID: 38495304
Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic...
7.
Figueiredo F, Tomaselli P, Hallak J, Mattiello-Sverzut A, Covaleski A, Sobreira C, et al.
J Peripher Nerv Syst
. 2024 Feb;
29(1):97-106.
PMID: 38375759
Background And Aims: The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients...
8.
Zanoteli E, Franca Jr M, Marques Jr W
Arq Neuropsiquiatr
. 2024 Feb;
82(6):1-10.
PMID: 38325390
Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused...
9.
Zanoteli E, Araujo A, Becker M, Fortes C, Franca Jr M, Machado-Costa M, et al.
Arq Neuropsiquiatr
. 2024 Feb;
82(1):1-18.
PMID: 38316428
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the . SMA-5q is characterized by progressive degeneration of the spinal cord...
10.
Lobo C, Wertheimer G, Schmitt G, Matos P, Rezende T, Silva J, et al.
Mov Disord Clin Pract
. 2024 Jan;
11(1):45-52.
PMID: 38291837
Background: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and...