User profiles for "author:Thalita Figueiredo"

Thalita Figueiredo

Docente - 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

LC Caires-Jśnior, E Goulart, US Melo… - Nature …, 2018 - nature.com
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 …

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 …

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 …

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 …

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 …

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 …

[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 …

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) …

[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; …

[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 …