Cargando…

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

SIMPLE SUMMARY: At present, no systematic study of the clinical spectrum and molecular characteristics of NF1 patients with spinal neurofibromatosis (SNF), a phenotypic subclass of neurofibromatosis 1 (NF1), has been carried out. Here, we provide evidence that SNF patients are at high risk of proble...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paterra, Rosina, Bettinaglio, Paola, Borghi, Arianna, Mangano, Eleonora, Tritto, Viviana, Cesaretti, Claudia, Schettino, Carla, Bordoni, Roberta, Santoro, Claudia, Avignone, Sabrina, Moscatelli, Marco, Melone, Mariarosa Anna Beatrice, Saletti, Veronica, Piluso, Giulio, Natacci, Federica, Riva, Paola, Eoli, Marica
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9817775/ https://www.ncbi.nlm.nih.gov/pubmed/36612057 http://dx.doi.org/10.3390/cancers15010059

Ejemplares similares

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients
por: Tritto, Viviana, et al.
Publicado: (2019)

126 novel mutations in Italian patients with neurofibromatosis type 1
por: Bianchessi, Donatella, et al.
Publicado: (2015)

Characterization of 22q12 Microdeletions Causing Position Effect in Rare NF2 Patients with Complex Phenotypes
por: Tritto, Viviana, et al.
Publicado: (2022)

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients
por: Bianchessi, Donatella, et al.
Publicado: (2020)

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort
por: Melloni, Giulia, et al.
Publicado: (2019)

ABCC3 Expressed by CD56(dim) CD16(+) NK Cells Predicts Response in Glioblastoma Patients Treated with Combined Chemotherapy and Dendritic Cell Immunotherapy
por: Pellegatta, Serena, et al.
Publicado: (2019)

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
por: Napolitano, Filomena, et al.
Publicado: (2022)

Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
por: Giugliano, Teresa, et al.
Publicado: (2019)

Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design
por: Riccardi, Claudia, et al.
Publicado: (2020)

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
por: Santoro, Claudia, et al.
Publicado: (2018)

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa–Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature
por: Conforti, Renata, et al.
Publicado: (2014)

Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations
por: Peduto, Cristina, et al.
Publicado: (2023)

Synergistic Interplay between Curcumin and Polyphenol-Rich Foods in the Mediterranean Diet: Therapeutic Prospects for Neurofibromatosis 1 Patients
por: Esposito, Teresa, et al.
Publicado: (2017)

Sporadic spinal psammomatous malignant melanotic nerve sheath tumor: A case report and literature review
por: Bonomo, Giulio, et al.
Publicado: (2023)

Rasagiline for sleep disorders in patients with Parkinson’s disease: a prospective observational study
por: Schettino, Carla, et al.
Publicado: (2016)

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
por: Santoro, Claudia, et al.
Publicado: (2018)

Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience
por: Taddei, Matilde, et al.
Publicado: (2023)

Cutaneous Findings in Neurofibromatosis Type 1
por: Ozarslan, Bengisu, et al.
Publicado: (2021)

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1
por: Cervi, Francesca, et al.
Publicado: (2020)

Polysomnographic study in pediatric neurofibromatosis type 1
por: Carotenuto, Marco, et al.
Publicado: (2023)

Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes
por: Tritto, Viviana, et al.
Publicado: (2023)

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene
por: Tritto, Viviana, et al.
Publicado: (2023)

Nanoparticle-Guided Brain Drug Delivery: Expanding the Therapeutic Approach to Neurodegenerative Diseases
por: Riccardi, Claudia, et al.
Publicado: (2021)

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
por: Santoro, Claudia, et al.
Publicado: (2020)

Advanced MRI Assessment during Dendritic Cell Immunotherapy Added to Standard Treatment against Glioblastoma
por: Cuccarini, Valeria, et al.
Publicado: (2019)

Survival gain in glioblastoma patients treated with dendritic cell immunotherapy is associated with increased NK but not CD8(+) T cell activation in the presence of adjuvant temozolomide
por: Pellegatta, Serena, et al.
Publicado: (2018)

Bioactive Phenolic Compounds in the Modulation of Central and Peripheral Nervous System Cancers: Facts and Misdeeds
por: Perrone, Lorena, et al.
Publicado: (2020)

NEDD9, a novel target of miR-145, increases the invasiveness of glioblastoma
por: Speranza, Maria Carmela, et al.
Publicado: (2012)

Expansion of effector and memory T cells is associated with increased survival in recurrent glioblastomas treated with dendritic cell immunotherapy
por: Eoli, Marica, et al.
Publicado: (2019)

Revisiting the Immunological Aspects of Temozolomide Considering the Genetic Landscape and the Immune Microenvironment Composition of Glioblastoma
por: Di Ianni, Natalia, et al.
Publicado: (2021)

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
por: D’Amico, Alessandra, et al.
Publicado: (2018)

The Lipid Asset Is Unbalanced in Peripheral Nerve Sheath Tumors
por: Vetrano, Ignazio G., et al.
Publicado: (2021)

RAS and beyond: the many faces of the neurofibromatosis type 1 protein
por: Anastasaki, Corina, et al.
Publicado: (2022)

Neurofibromatosis: New Clinical Challenges in the Era of COVID-19
por: Ardizzone, Alessio, et al.
Publicado: (2022)

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome
por: D’Amico, Alessandra, et al.
Publicado: (2020)

Neurofibromatosis
por: Gerber, PA, et al.
Publicado: (2009)

Neurofibromatosis
por: Hovinga, Koos E., et al.
Publicado: (2020)

Neurofibromatosis and HIV infection in a pregnant woman
por: Pepe, Franco, et al.
Publicado: (2021)

Neurofibromatosis : revisión bibliográfica /
por: León Mendoza, Raúl
Publicado: (1987)

Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1
por: Torres Nupan, Martha Milade, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_73t4qlu0lgodelcpu7041nuos2