A5079157772- Fetal and Pediatric Neurological Disorders
- Neonatal and fetal brain pathology
- Glioma Diagnosis and Treatment
- Cerebrospinal fluid and hydrocephalus
- Spinal Dysraphism and Malformations
- RNA regulation and disease
- Vascular Malformations Diagnosis and Treatment
- Prenatal Screening and Diagnostics
- Advanced Neuroimaging Techniques and Applications
- Meningioma and schwannoma management
- Advanced MRI Techniques and Applications
- Metabolism and Genetic Disorders
- Neuroblastoma Research and Treatments
- Neonatal Respiratory Health Research
- Mitochondrial Function and Pathology
- Intracranial Aneurysms: Treatment and Complications
- Infectious Encephalopathies and Encephalitis
- RNA Research and Splicing
- Pituitary Gland Disorders and Treatments
- Ion Transport and Channel Regulation
- Infant Development and Preterm Care
- Neurological Complications and Syndromes
- Neurofibromatosis and Schwannoma Cases
- Growth Hormone and Insulin-like Growth Factors
- Traumatic Brain Injury and Neurovascular Disturbances
University of Genoa
2006-2025
Istituto Giannina Gaslini
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2025
ASL Roma
2013-2024
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2015-2024
Universidad de la República de Uruguay
2004-2024
Sorbonne Université
2017-2024
Texas Children's Hospital
2024
Great Ormond Street Hospital for Children NHS Foundation Trust
2024
Centre National de la Recherche Scientifique
2024
Autoantibodies against astrocyte water channel aquaporin-4 (AQP4) are highly specific for the neuroinflammatory disease neuromyelitis optica (NMO). We measured binding of NMO autoantibodies to AQP4 in human astrocyte-derived U87MG cells expressing M1 and/or M23 AQP4, or mutants that do not form orthogonal array particles (OAPs). Binding affinity was quantified by two-color fluorescence ratio imaging stained with serum a recombinant monoclonal autoantibody (NMO-rAb), together C terminus...
Central diabetes insipidus (CDI) is considered idiopathic in 20% to 50% of affected subjects.The purpose this study was determine whether a systematic diagnostic workup could achieve better etiologic diagnosis children and adolescents presenting with polyuria polydipsia.This prospective conducted at tertiary referral center. Patients underwent clinical endocrine evaluations every 6 months neuroimaging for 2 years yearly 3 years. Endocrine function were also reassessed after adult height...
Our study was aimed at examinating whether or not the human genome encodes for previously unreported cysteine cathepsins. To this end, we used analyses of sequence and mRNA expression levels. The program TBLASTN employed to scan draft 11 known cathepsin-like segments in were inspected, filtered, annotated. In addition cathepsins, identified three pseudogenes, closely related cathepsin L, on chromosome 10, as well two remote homologs, tubulointerstitial protein antigen antigen-related...
We aimed to test the hypothesis that medulloblastoma (MB) variants show a different age distribution and clinical behavior reflecting their specific biology, MB occurring at very young is associated with cancer predisposition syndromes such as Gorlin syndrome (GS).We investigated frequency, distribution, location, response treatment, outcome, association familial in series of 82 cases patients ages <14 years diagnosed Giannina Gaslini Children's Hospital, Genoa, between 1987...
The characterization of the underlying GALC gene lesions was performed in 30 unrelated patients affected by Krabbe disease, an autosomal recessive leukodystrophy caused deficiency lysosomal enzyme galactocerebrosidase. mutational spectrum comprised 33 distinct mutant (including 15 previously unreported) alleles. With exception 4 novel missense mutations that replaced evolutionarily highly conserved residues (p.P318R, p.G323R, p.I384T, p.Y490N), most newly described altered mRNA processing....
Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting 1 1,000 live births. Mouse models were instrumental in defining signaling pathways defective NTDs, including planar cell polarity (PCP), also called noncanonical Frizzled/Disheveled pathway. Based on highly penetrant occurrence NTDs double Fzd3/Fzd6−/− mutant mice, we investigated role human orthologues, FZD3 and FZD6, by resequencing a cohort 473 patients 639 ethnically matched controls. While could...
Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors signal transduction pathways. Until recently, only somatic PIGA mutations had been reported patients with paroxysmal nocturnal hemoglobinuria (PNH), while germline not observed, were suspected to result lethality. However, just two years, whole exome...