Autism Science

Rate of de novo mutations and the importance of father's age to disease risk.

Submitted by nlombardi on March 25, 2013 - 16:54
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22914163
Date Published: 
August 23, 2012
Abstract: 

These observations shed light on the importance of the father's age on the risk of diseases such as schizophrenia and autism.

De novo gene disruptions in children on the autistic spectrum.

Submitted by nlombardi on March 25, 2013 - 16:50
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22542183
Date Published: 
April 26, 2012
Abstract: 

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Submitted by nlombardi on March 25, 2013 - 16:46
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/21996756
Date Published: 
April 2012
Abstract: 

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Genetic architecture in autism spectrum disorder.

Submitted by nlombardi on March 25, 2013 - 16:40
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22463983
Date Published: 
June 22, 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

The genetic variability and commonality of neurodevelopmental disease.

Submitted by nlombardi on March 25, 2013 - 16:37
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22499536
Date Published: 
May 15, 2010
Abstract: 

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Submitted by nlombardi on March 25, 2013 - 16:31
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22566635
Date Published: 
May 22, 2012
Abstract: 

Data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

The geometric structure of the brain fiber pathways.

Submitted by nlombardi on March 25, 2013 - 16:17
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22461612
Date Published: 
May 11, 2012
Abstract: 

Findings from analyzing relationships of adjacency and crossing between cerebral fiber pathways in four nonhuman primate species and in humans by using diffusion magnetic resonance imaging.

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice.

Submitted by nlombardi on March 25, 2013 - 15:20
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22763451
Date Published: 
August 30, 2012
Abstract: 

Findings demonstrate new roles for Tsc1 in PC function and define a molecular basis for a cerebellar contribution to cognitive disorders such as autism.

Developmental trajectories of resting EEG power: an endophenotype of autism spectrum disorder.

Submitted by nlombardi on March 25, 2013 - 15:13
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22745707
Date Published: 
2012
Abstract: 

Differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.

Day and nighttime excretion of 6-sulphatoxymelatonin in adolescents and young adults with autistic disorder.

Submitted by nlombardi on March 25, 2013 - 15:06
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22613035
Date Published: 
Dec 2012
Abstract: 

A deficit in melatonin production is present both at daytime and at nighttime in individuals with autism, particularly in the most severely affected individuals.