Collections in this community

Recent Submissions

1. Mutations in <i>PTPN11</i> could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series

   JOURNAL OF NEUROLOGY, v.271, n.3, p.1331-1341, 2024

   The RASopathies are a group of genetic rare diseases caused by mutations affecting genes involved in the RAS/MAPK (RAS-mitogen activated protein kinase) pathway. Among them, PTPN11 pathogenic variants are responsible for approximately 50% of Noonan syndrome (NS) cases and, albeit to a lesser exte...

2. Homocysteine serum levels in patients with ruptured and unruptured intracranial aneurysms: a case-control study

   ARQUIVOS DE NEURO-PSIQUIATRIA, v.82, n.2, p.10-10, 2024

   Background There is very few data regarding homocysteine's influence on the formation and rupture of intracranial aneurysms. Objective To compare homocysteine levels between patients with ruptured and unruptured intracranial aneurysms, and to evaluate possible influences of this molecule on vasos...

3. Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy

   NEUROLOGICAL SCIENCES, v.45, n.3, p.1225-1231, 2024

   Background Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively eval...

4. Therapeutic plasma exchange for neuromyelitis optica attacks: Evidence and challenges from a real-world cohort from Brazil

   JOURNAL OF NEUROIMMUNOLOGY, v.388, article ID 578295, 8p, 2024

   Therapeutic plasma exchange (TPE) can improve disability recovery after neuromyelitis optica spectrum disease (NMOSD) attacks, but its effectiveness and safety in Latin-American patients with access barriers and diverse ethnicity is underexplored. We carried out a retrospective cohort study with ...

5. Natural history and neuro-oncological approach in spinal gangliogliomas: a systematic review

   NEUROSURGICAL REVIEW, v.47, n.1, article ID 93, 12p, 2024

   To describe the natural history of spinal gangliogliomas (GG) in order to determine the most appropriate neuro-oncological management. A Medline search for relevant publications up to July 2023 using the key phrase ""ganglioglioma spinal"" and ""ganglioglioma posterior fossa"" led to the retrieva...

6. Integrated transcriptomics uncovers an enhanced association between the prion protein gene expression and vesicle dynamics signatures in glioblastomas

   BMC CANCER, v.24, n.1, article ID 199, 17p, 2024

   BackgroundGlioblastoma (GBM) is an aggressive brain tumor that exhibits resistance to current treatment, making the identification of novel therapeutic targets essential. In this context, cellular prion protein (PrPC) stands out as a potential candidate for new therapies. Encoded by the PRNP gene...

7. Probable 4-Repeat Tauopathy Criteria Predict Brain Amyloid Negativity, Distinct Clinical Features, and FDG-PET/MRI Neurodegeneneration Patterns in Corticobasal Syndrome

   MOVEMENT DISORDERS CLINICAL PRACTICE, v.11, n.3, p.238-247, 2024

   BackgroundCorticobasal syndrome (CBS) is associated with diverse underlying pathologies, including the four-repeat (4R)-tauopathies. The Movement Disorders Society (MDS) criteria for progressive supranuclear palsy (PSP) proposed the novel category ""probable 4R-tauopathy"" to address the phenotyp...

8. Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

   ARQUIVOS DE NEURO-PSIQUIATRIA, v.82, n.1, p.8-18, 2024

   Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced surviva...

9. Maxillary artery utilization in subcranial-intracranial bypass procedures: a comprehensive systematic review and pooled analysis

   NEUROSURGICAL REVIEW, v.47, n.1, article ID 41, 19p, 2024

   The utilization of the internal maxillary artery (IMAX) in subcranial-intracranial bypass for revascularization in complex aneurysms, tumors, or refractory ischemia shows promise. However, robust evidence concerning its outcomes is lacking. Hence, the authors embarked on a systematic review with ...

10. New perspectives on assessment and understanding of the patient with cranial bone defect: a morphometric and cerebral radiodensity assessment

    FRONTIERS IN SURGERY, v.11, article ID 1329019, 8p, 2024

    Background Skull defects after decompressive craniectomy (DC) cause physiological changes in brain function and patients can have neurologic symptoms after the surgery. The objective of this study is to evaluate whether there are morphometric changes in the cortical surface and radiodensity of br...