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Fernanda Barbosa Figueiredo

Observed names: Fernanda Figueiredo, Figueiredo, Fernanda Barbosa
Institution: Mendelics
ORCID: 0000-0001-7820-9574
Observed ORCID: 0000-0001-7820-9574
OpenAlex ID: A5049540315
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort
2021 · Vivian Pedigone Cintra, Maike F. Dohrn, et al. · Journal of the Neurological Sciences · 11
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Conduction block and temporal dispersion in a SIGMAR1 ‐related neuropathy
2022 · Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, et al. · Journal of the Peripheral Nervous System · 7
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
2021 · Fernanda Barbosa Figueiredo, Wilson Araújo Silva, et al. · Neuromuscular Disorders · 7
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
2024 · Mohamed S Abdel-Hamid, Adeline Paimboeuf, et al. · Brain Communications · 6
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
2025 · Natalia Dominik, Stephanie Efthymiou, et al. · Journal of Clinical Investigation · 3
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Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children
2024 · Fernanda Barbosa Figueiredo, Pedro José Tomaselli, et al. · Journal of the Peripheral Nervous System · 3
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Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
2026 · Luiza L. P. Ramos, Jevin M. Parmar, et al. · Annals of Neurology · 1
Caracterização genotípica de pacientes brasileiros pediátricos com a doença de Charcot-Marie-Tooth axonal utilizando tecnologias de sequenciamento de nova geração
2021 · Fernanda Barbosa Figueiredo · Digital Library of Theses and Dissertations (Universidade de São Paulo)
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Loss of Function, Loss of Pain? Novel Variants in SCN9A to Explain Congenital Insensitivity to Pain in Three Brazilian Cases (4899)
2021 · Vivian Pedigone Cintra, Maike Dohrn, et al. · Neurology
Palliative Care After Prenatal Diagnosis of Life-limiting Malformations: A Model of Care
2018 · Lisandra Stein Bernardes, Maria Augusta B.C. Gibelli, et al. · Journal of Pain and Symptom Management
Investigação mutacional do gene GDAP1 em pacientes brasileiros acometidos com a doença de Charcot-Marie-Tooth axonal e desmielinizante
2017 · Fernanda Barbosa Figueiredo · Digital Library of Theses and Dissertations (Universidade de São Paulo)
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Mutational investigation of the GDAP1 gene in brazilian patients with axonal-demyelinating Charcot-Marie-Tooth disease
2016 · Figueiredo, Fernanda Barbosa · LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)
Works count: 12
Citation count: 38
H-index: 4
I10-index: 1
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