Isabella Peixoto de Barcelos
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Explore the profile of Isabella Peixoto de Barcelos including associated specialties, affiliations and a list of published articles.
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16
Citations
202
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Recent Articles
1.
Peixoto de Barcelos I, Jan A, Modesti N, Woidill S, Gavazzi F, Isaacs D, et al.
Mol Genet Metab
. 2024 Sep;
143(1-2):108578.
PMID: 39332260
Objective: Aicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. A critical gap exists in our understanding of its longitudinal, systemic disease burden, complicated by...
2.
Gavazzi F, Vaia Y, Woidill S, Formanowski B, Peixoto de Barcelos I, Sevagamoorthy A, et al.
Neurology
. 2024 Jun;
103(1):e209541.
PMID: 38857477
Background And Objectives: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of...
3.
Cusack S, Gavazzi F, Peixoto de Barcelos I, Modesti N, Woidill S, Formanowski B, et al.
J Child Neurol
. 2024 Mar;
39(3-4):147-154.
PMID: 38532733
Aicardi-Goutières syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there...
4.
Peixoto de Barcelos I, Woidill S, Gavazzi F, Modesti N, Sevagamoorthy A, Vanderver A, et al.
Mol Genet Metab
. 2024 Feb;
142(1):108346.
PMID: 38368708
Objective: Aicardi Goutières Syndrome (AGS) is a genetic interferonopathy associated with multisystemic heterogeneous disease and neurologic dysfunction. AGS includes a broad phenotypic spectrum which is only partially explained by genotype....
5.
Peixoto de Barcelos I, Li D, Watson D, McCormick E, Elden L, Aleman T, et al.
Brain Sci
. 2023 Aug;
13(8).
PMID: 37626566
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL),...
6.
Peixoto de Barcelos I, Bueno C, S Godoy L, Pessoa A, A Costa L, C Monti F, et al.
Brain Sci
. 2023 Aug;
13(8).
PMID: 37626525
Objective: To report a series of atypical presentations of Aicardi-Goutières syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a...
7.
Sheppard S, Bryant L, Wickramasekara R, Vaccaro C, Robertson B, Hallgren J, et al.
Sci Adv
. 2023 Mar;
9(10):eade1463.
PMID: 36897941
Pathogenic variants in , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM 617788). Given the relatively recent discovery of this disorder, it has...
8.
de Gusmao C, Peixoto de Barcelos I, Pinto A, Silveira-Moriyama L
Neurology
. 2023 Feb;
101(1):46-49.
PMID: 36805432
Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency, or mitochondrial respiratory chain disorders. A 4-year-old boy with a history...
9.
de Paiva A, Pessoa A, Nobrega P, Moreno C, Lynch D, Taniguti L, et al.
J Neurol Neurosurg Psychiatry
. 2023 Feb;
94(5):405-408.
PMID: 36737246
No abstract available.
10.
Camacho-Caballero K, Malaga M, Peixoto de Barcelos I, Prentice A, Berkowitz A
Neurohospitalist
. 2022 Dec;
13(1):74-77.
PMID: 36531844
A 47-year-old man presented to his local hospital in Peru after a generalized tonic-clonic seizure. His family reported a history of prior stroke of unclear etiology. This case report discusses...