[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 …
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 …
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 …
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 …
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 …
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
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 …
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
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 …
the identification of large ID-affected families showing X-linked segregation, much attention …
Genetics of intellectual disability in consanguineous families
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …
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
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 …
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
Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …
been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 …