Jussara M Dos Santos
Overview
Explore the profile of Jussara M Dos Santos including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
34
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0
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Recent Articles
1.
Santos-Reboucas C, Boy R, Fernandes G, Goncalves A, Abdala B, Gonzalez L, et al.
Eur J Med Genet
. 2023 Feb;
66(4):104716.
PMID: 36731745
Sequence variants and duplications in the HECT, UBA and WWE domain -containing 1 (HUWE1) E3 ubiquitin ligase gene have been associated with X-linked mild to severe intellectual disability (ID), but...
2.
Santos-Reboucas C, Boy R, Vianna E, Goncalves A, Piergiorge R, Abdala B, et al.
Front Genet
. 2020 Mar;
11:101.
PMID: 32194616
In mammalian females, X-chromosome inactivation (XCI) acts as a dosage compensation mechanism that equalizes X-linked genes expression between homo- and heterogametic sexes. However, approximately 12-23% of X-linked genes escape from...
3.
Voigt D, Nascimento C, de Souza R, Cabello Acero P, Junior M, da Silva C, et al.
Neurobiol Aging
. 2018 Oct;
74:236.e7-236.e8.
PMID: 30342766
Robust evidence on the involvement of genetic factors in the etiology of Parkinson's disease (PD) expands our knowledge about monogenic causes that contribute for this important neurodegenerative disorder. Mutations in...
4.
da Silva C, de M Abreu G, Cabello Acero P, Junior M, Pereira J, de A Ramos S, et al.
J Neurol Sci
. 2017 Oct;
381:160-164.
PMID: 28991672
Background: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors,...
5.
de M Abreu G, Valenca D, Junior M, da Silva C, Pereira J, Araujo Leite M, et al.
Neurosci Lett
. 2016 Oct;
635:67-70.
PMID: 27777137
Introduction: Amongst Parkinson's disease (PD) genetic factors, mutations in LRRK2, SNCA, VPS35 and GBA genes are recognized causes of PD. Nonetheless, few genetic screenings have been conducted in families with...
6.
Pimentel M, Rodrigues F, Leite M, Junior M, Rosso A, Nicaretta D, et al.
Parkinsonism Relat Disord
. 2015 Mar;
21(6):586-9.
PMID: 25817515
Background: Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a...