[HTML][HTML] Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
[HTML][HTML] Essential genetic findings in neurodevelopmental disorders
AR Cardoso, M Lopes-Marques, RM Silva, C Serrano… - Human genomics, 2019 - Springer
Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …
Mechanisms underlying circuit dysfunction in neurodevelopmental disorders
D Exposito-Alonso, B Rico - Annual Review of Genetics, 2022 - annualreviews.org
Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …
An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy
MJ Millan - Neuropharmacology, 2013 - Elsevier
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …
development of the brain, leading to deficits in language, cognition, motor behaviour and …
The genetics of neurodevelopmental disease
KJ Mitchell - Current opinion in neurobiology, 2011 - Elsevier
The term neurodevelopmental disorder encompasses a wide range of diseases, including
recognizably distinct syndromes known to be caused by very rare mutations in specific …
recognizably distinct syndromes known to be caused by very rare mutations in specific …
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including
intellectual disability, global developmental delay, autism spectrum disorder, and attention …
intellectual disability, global developmental delay, autism spectrum disorder, and attention …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
[HTML][HTML] mTOR pathway: insights into an established pathway for brain mosaicism in epilepsy
A Gerasimenko, S Baldassari, S Baulac - Neurobiology of Disease, 2023 - Elsevier
The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …
New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives
A Mühlebner, A Bongaarts, HB Sarnat… - Journal of …, 2019 - Wiley Online Library
In recent years the role of the mammalian target of rapamycin (mTOR) pathway has
emerged as crucial for normal cortical development. Therefore, it is not surprising that …
emerged as crucial for normal cortical development. Therefore, it is not surprising that …
Annual research review: the (epi) genetics of neurodevelopmental disorders in the era of whole‐genome sequencing–unveiling the dark matter
Background and Scope Neurodevelopmental disorders (NDD s) are defined by a wide
variety of behavioural phenotypes, psychopathology and clinically informed categorical …
variety of behavioural phenotypes, psychopathology and clinically informed categorical …