[HTML][HTML] The role of the microtubule cytoskeleton in neurodevelopmental disorders

M Lasser, J Tiber, LA Lowery - Frontiers in cellular neuroscience, 2018 - frontiersin.org
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

[HTML][HTML] Dendritic spine plasticity: function and mechanisms

K Runge, C Cardoso, A De Chevigny - Frontiers in synaptic …, 2020 - frontiersin.org
Dendritic spines are small protrusions studding neuronal dendrites, first described in 1888
by Ramón y Cajal using his famous Golgi stainings. Around 50 years later the advance of …

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

H Najmabadi, H Hu, M Garshasbi, T Zemojtel… - Nature, 2011 - nature.com
Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

[HTML][HTML] Prenatal, perinatal and neonatal risk factors for intellectual disability: a systemic review and meta-analysis

J Huang, T Zhu, Y Qu, D Mu - PloS one, 2016 - journals.plos.org
Background The etiology of non-genetic intellectual disability (ID) is not fully known, and we
aimed to identify the prenatal, perinatal and neonatal risk factors for ID. Method PubMed and …

[HTML][HTML] Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

FF Hamdan, J Gauthier, Y Araki, DT Lin… - The American Journal of …, 2011 - cell.com
Little is known about the genetics of nonsyndromic intellectual disability (NSID). We
hypothesized that de novo mutations (DNMs) in synaptic genes explain an important fraction …

[HTML][HTML] XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

A Piton, C Redin, JL Mandel - The American Journal of Human Genetics, 2013 - cell.com
Because of the unbalanced sex ratio (1.3–1.4 to 1) observed in intellectual disability (ID) and
the identification of large ID-affected families showing X-linked segregation, much attention …

Genetics of intellectual disability in consanguineous families

H Hu, K Kahrizi, L Musante, Z Fattahi, R Herwig… - Molecular …, 2019 - nature.com
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

[HTML][HTML] Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

MA Khan, MA Rafiq, A Noor, S Hussain… - The American Journal of …, 2012 - cell.com
Causes of autosomal-recessive intellectual disability (ID) have, until very recently, been
under researched because of the high degree of genetic heterogeneity. However, now that …

[HTML][HTML] De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

FF Hamdan, H Daoud, D Rochefort, A Piton… - The American Journal of …, 2010 - cell.com
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …