User profiles for "author:Thalita Figueiredo"
Thalita FigueiredoDocente - Faculdade de Medicina, Universidade Federal de Alagoas Verified email at famed.ufal.br Cited by 323 |
[HTML][HTML] Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells
Congenital Zika syndrome (CZS) causes early brain development impairment by affecting
neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of dizygotic twins …
neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of dizygotic twins …
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
US Melo, LI Macedo-Souza, T Figueiredo… - Human molecular …, 2015 - academic.oup.com
SPOAN syndrome is a neurodegenerative disorder mainly characterized by spastic
paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound …
paraplegia, optic atrophy and neuropathy (SPOAN). Affected patients are wheelchair bound …
Reconsidering the association between the major histocompatibility complex and bipolar disorder
TC Figueiredo, JRM de Oliveira - Journal of molecular neuroscience, 2012 - Springer
Bipolar disorder (BD) is a cyclical and chronic affective disorder, globally recognized as an
important public health problem and characterized by mood changes with recurring phases …
important public health problem and characterized by mood changes with recurring phases …
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
T Figueiredo, US Melo, ALS Pessoa… - Journal of Medical …, 2015 - jmg.bmj.com
Background Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of
the population worldwide. In a field study conducted in a highly inbred area of Northeastern …
the population worldwide. In a field study conducted in a highly inbred area of Northeastern …
Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for …
D Oliveira, DA Morales-Vicente… - Human molecular …, 2020 - academic.oup.com
Amyotrophic lateral sclerosis type 8 (ALS8) is an autosomal dominant form of ALS, which is
caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients …
caused by pathogenic variants in the VAPB gene. Here we investigated five ALS8 patients …
Inositol monophosphatase 1 (IMPA1) mutation in intellectual disability patients impairs neurogenesis but not gliogenesis
T Figueiredo, APD Mendes, DP Moreira, E Goulart… - Molecular …, 2021 - nature.com
A homozygous mutation in the inositol monophosphatase 1 (IMPA1) gene was recently
identified in nine individuals with severe intellectual disability (ID) and disruptive behavior …
identified in nine individuals with severe intellectual disability (ID) and disruptive behavior …
[HTML][HTML] Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)
ALS Pessoa, AA Quesada, PR Nóbrega, APO Viana… - Brain Sciences, 2023 - mdpi.com
Biallelic loss of function of IMPA1 causes autosomal recessive intellectual developmental
disorder 59 (MRT59, OMIM# 617323). MRT59 has been reported to present with significant …
disorder 59 (MRT59, OMIM# 617323). MRT59 has been reported to present with significant …
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations …
JLO Madeira, MY Nishi, M Nakaguma… - Clinical …, 2017 - Wiley Online Library
Summary Background Mutations in PROP 1, HESX 1 and LHX 3 are associated with
combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) …
combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) …
[HTML][HTML] Reliability of information on people with disabilities gathered by community health workers in highly consanguineous communities of Northeastern Brazil
FRL Lopes, KS Monteiro, T Figueiredo… - BMC Health Services …, 2017 - Springer
Abstract Background In Brazil, community health workers have gathered monthly information
on people with disabilities to maintain the Primary Care Information System since 1998; …
on people with disabilities to maintain the Primary Care Information System since 1998; …
[HTML][HTML] Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG
CP Walker, ALS Pessoa, T Figueiredo… - Orphanet Journal of …, 2019 - Springer
Background Dysregulation of the inositol cycle is implicated in a wide variety of human
diseases, including developmental defects and neurological diseases. A homozygous …
diseases, including developmental defects and neurological diseases. A homozygous …