Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes

KJ Peall, MJ Owen, J Hall - Nature Reviews Neurology, 2024 - nature.com
Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

Neuroimaging biomarkers for predicting stroke outcomes: A systematic review

E Gaviria, AH Eltayeb Hamid - Health Science Reports, 2024 - Wiley Online Library
Abstract Background and Aims Stroke is a prominent cause of long‐term adult impairment
globally and a significant global health issue. Only 14% of stroke survivors achieve full …

Epigenetic insights into Fragile X Syndrome

L Xie, H Li, ML Xiao, N Chen, X Zang, Y Liu… - Frontiers in Cell and …, 2024 - frontiersin.org
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with
intellectual disability and autism spectrum disorders. The core of the disease lies in the …

Deficits in olfactory system neurogenesis in neurodevelopmental disorders

SC Sweat, CEJ Cheetham - genesis, 2024 - Wiley Online Library
The role of neurogenesis in neurodevelopmental disorders (NDDs) merits much attention.
The complex process by which stem cells produce daughter cells that in turn differentiate …

Different faces of autism: Patients with mutations in PTEN and FMR1 genes

A Gorlewicz, E Kanpska - Acta Neurobiologiae Experimentalis, 2024 - ane.pl
Autism spectrum disorder (ASD) is among the most common neurodevelopmental
conditions in humans. While public awareness of the challenges faced by individuals with …

Diagnosing Neurodevelopmental, Behavioral, and Mental Disorders Associated with Fragile X Syndrome with the ICD-11

D Stevanovic - Advances in Neurodevelopmental Disorders, 2023 - Springer
Full mutations within the Fragile X Messenger Ribonucleoprotein 1 gene (FMR1) give rise to
a diverse array of neuropsychiatric and neurodevelopmental phenotypes across various age …

[HTML][HTML] X-ploring Fragile X: The Science Behind the Syndrome

LE Washco, AT Hark - 2024 - qubeshub.org
Fragile X Syndrome is an X-linked genetic disorder resulting from the impairment of
transcription of the FMR1 gene, producing less to no FMRP protein. FMRP is a translational …

[HTML][HTML] Intellectual Disability

SK Jain, T Shick, M Li, M Nguyen - now.aapmr.org
Intellectual disability (ID), also known as general learning disability, is defined as impaired
intellectual ability of conceptual, social, and/or practical domains. ID is identified during …

Particularități neurogenetice în sindromul X-fragil (reviu de literatură)

D Vasilachi, S Hadjiu, S Racoviță, O Tihai… - Actualități în pediatrie …, 2023 - ibn.idsi.md
Sindromul X-fragil (FXS) reprezintă o afecţiune ereditară monogenică, transmisă X-lincat
dominant, fiind cea mai răspândită cauză de dizabilitate intelectuală moștenită cu variat …