Search Results - "Roque, Rafael Fidalgo"
-
1
Medulloblastoma Development in a Patient with a Constitutional Balanced t(5;22)(q35.1;q11.2) Involving the NF2 Gene
Published in Case reports in oncology (01-01-2023)“…Abstract Neurofibromatosis type 2 (NF2) is a brain tumor predisposing syndrome caused by inactivating alterations of the NF2 gene mapped at chromosome 22q…”
Get full text
Journal Article -
2
Histopathological characterization of cerebral small vessel disease in epilepsy patients with temporal lobe epilepsy submitted to surgery: a case–control study
Published in European journal of neurology (01-10-2023)“…© 2023 European Academy of Neurology. Background: Cerebrovascular disease (CVD) is a major contributor to epilepsy; however, patients with epilepsy also have a…”
Get full text
Journal Article -
3
Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort
Published in Journal of clinical neuroscience (01-12-2022)“…•Clinical epidemiology of inherited myopathies in sub-Saharan Africa (SSA) is unknown.•We report a case series with 9 patients from SSA.•All patients had the…”
Get full text
Journal Article -
4
A case of trigeminal malignant melanotic nerve sheath tumor in the wide spectrum of melanotic and nerve sheath tumors
Published in Neuropathology (01-08-2023)“…© 2023 Japanese Society of Neuropathology. We report the case of a 42-year-old male, without any other personal or familiar relevant background, who was…”
Get full text
Journal Article -
5
Integrative multi-omics reveals two biologically distinct groups of pilocytic astrocytoma
Published in Acta neuropathologica (01-10-2023)“…© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing,…”
Get full text
Journal Article -
6