The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

N Specchio, V Di Micco, M Trivisano, A Ferretti… - …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic
encephalopathy, and early interventions targeting social and cognitive deficits can have …

Genetics and epigenetics of one-carbon metabolism pathway in autism spectrum disorder: a sex-specific brain epigenome?

V Tisato, JA Silva, G Longo, I Gallo, AV Singh, D Milani… - Genes, 2021 - mdpi.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting
behavior and communication, presenting with extremely different clinical phenotypes and …

Using machine learning to explore shared genetic pathways and possible endophenotypes in autism spectrum disorder

D Di Giovanni, R Enea, V Di Micco, A Benvenuto… - Genes, 2023 - mdpi.com
Autism spectrum disorder (ASD) is a heterogeneous condition, characterized by complex
genetic architectures and intertwined genetic/environmental interactions. Novel analysis …

Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

P Curatolo, M Scheper, L Emberti Gialloreti… - World Journal of …, 2024 - Springer
Background Tuberous sclerosis complex (TSC) is a genetic disorder caused by inactivating
mutations in the TSC1 and TSC2 genes, causing overactivation of the mechanistic …

Diversity and molecular network patterns of symptom phenotypes

Z Shu, J Wang, H Sun, N Xu, C Lu, R Zhang… - NPJ Systems Biology …, 2021 - nature.com
Symptom phenotypes have continuously been an important clinical entity for clinical
diagnosis and management. However, non-specificity of symptom phenotypes for clinical …

Genetics and epigenetics of the one-carbon metabolism pathway in autism spectrum disorder: Role of a sex-specific brain epigenome

D Gemmati, V Tisato - Sex, Gender, and Epigenetics, 2023 - Elsevier
Folate participates in the one-carbon metabolism pathway, and several genes code for the
specific enzymes responsible for the different isoforms present in the cell. Folate acts as a …

Subtypes of relapsing-remitting multiple sclerosis identified by network analysis

Q Howlett-Prieto, C Oommen, MD Carrithers… - Frontiers in Digital …, 2023 - frontiersin.org
We used network analysis to identify subtypes of relapsing-remitting multiple sclerosis
subjects based on their cumulative signs and symptoms. The electronic medical records of …

Jeremy M. Bingen1, 2, Lindsay V. Clark3, Mark R. Band3, Ilyas Munzir1 and Michael D. Carrithers1, 2, 4

H Xie, A Didonna, E Ewing… - The Digitalization of …, 2023 - books.google.com
Multiple sclerosis (MS) is a major cause of non-traumatic neurologic disability in young
adults. The prevalence of MS is increasing worldwide and is more common in …

[PDF][PDF] Visual analytics for the exploration of cultural models

P Chini Foroushan - 2021 - cg.tuwien.ac.at
Ziel dieser Masterarbeit ist es, aktuelle Visual-Analytics-Methoden zur Erforschung und
Analyse kultureller Modelle zu überprüfen und zu verstehen. Anschließend entwarfen und …