Autism and autism spectrum disorders: diagnostic issues for the coming decade, Journal of Child Psychology and Psychiatry, vol.37, issue.1-2, pp.108-115, 2009. ,
DOI : 10.1111/j.1469-7610.2008.02010.x
The Human FA2H Gene Encodes a Fatty Acid 2-Hydroxylase, Journal of Biological Chemistry, vol.279, issue.47, pp.27948562-48568, 2004. ,
DOI : 10.1074/jbc.M406649200
Differences in White Matter Fiber Tract Development Present From 6 to 24 Months in Infants With Autism, American Journal of Psychiatry, vol.169, issue.6, pp.169589-600 ,
DOI : 10.1176/appi.ajp.2011.11091447
Transcriptomic analysis of autistic brain reveals convergent molecular pathology, Nature, vol.38, issue.7351, pp.474380-384, 2011. ,
DOI : 10.1038/nature10110
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends in Genetics, vol.26, issue.8, pp.26363-372, 2010. ,
DOI : 10.1016/j.tig.2010.05.007
Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection, Current Opinion in Neurobiology, vol.15, issue.2, pp.225-230, 2005. ,
DOI : 10.1016/j.conb.2005.03.001
Fatty acid 2-Hydroxylation in mammalian sphingolipid biology, Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol.1801, issue.4, pp.405-414 ,
DOI : 10.1016/j.bbalip.2009.12.004
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35), Human Mutation, vol.31, issue.4, pp.31-1251, 2010. ,
DOI : 10.1002/humu.21205
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia, The American Journal of Human Genetics, vol.83, issue.5, pp.643-648, 2008. ,
DOI : 10.1016/j.ajhg.2008.10.010
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration, European Journal of Human Genetics, vol.152, issue.4, pp.476-479 ,
DOI : 10.1074/jbc.M406649200
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA), Annals of Neurology, vol.34, issue.5, pp.68611-618, 2010. ,
DOI : 10.1002/ana.22122
Functional impact of global rare copy number variation in autism spectrum disorders, Nature, vol.81, issue.7304, pp.466368-372, 2010. ,
DOI : 10.1038/nature09146
URL : https://hal.archives-ouvertes.fr/inserm-00521387
Co-occurrence of de novo SHANK2 deletions and inherited 15q11-q13 CNVs supports a multiple hit model of autism spectrum disorders, Plos Genet, 2012. ,
A Quantitative Trait Locus Analysis of Social Responsiveness in Multiplex Autism Families, American Journal of Psychiatry, vol.164, issue.4, pp.656-662, 2007. ,
DOI : 10.1176/ajp.2007.164.4.656
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype, Developmental Medicine & Child Neurology, vol.22, issue.10, 2011. ,
DOI : 10.1111/j.1469-8749.2011.03993.x
-Associated Neurodegeneration, Journal of Child Neurology, vol.72, issue.11, 2012. ,
DOI : 10.1038/nmeth0410-248
URL : https://hal.archives-ouvertes.fr/hal-01268053
Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation, European journal of neurology : the official journal of the European Federation of Neurological Societies, vol.2012, issue.11, pp.19-127 ,
A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review, Journal of the Neurological Sciences, vol.329, issue.1-2, pp.1-5 ,
DOI : 10.1016/j.jns.2013.02.026
Autism diagnostic observation schedule: a standardized observation of communicative and social behavior, J Autism Dev Disord, vol.19, issue.2, pp.185-212, 1989. ,
DOI : 10.1037/t54175-000
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-685, 1994. ,
DOI : 10.1007/BF02172145
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications, Genome Research, vol.19, issue.9, pp.1682-1690, 2009. ,
DOI : 10.1101/gr.083501.108
Patterns and rates of exonic de novo mutations in autism spectrum disorders, Nature, vol.7, issue.7397, pp.485242-245 ,
DOI : 10.1038/nature11011
URL : https://hal.archives-ouvertes.fr/inserm-00939274
Genetics of autism spectrum disorders, Trends in Cognitive Sciences, vol.15, issue.9, pp.409-416, 2011. ,
DOI : 10.1016/j.tics.2011.07.003
Changes in Prefrontal Axons May Disrupt the Network in Autism, Journal of Neuroscience, vol.30, issue.44, pp.14595-14609, 2010. ,
DOI : 10.1523/JNEUROSCI.2257-10.2010
Atypical development of white matter microstructure in adolescents with autism spectrum disorders, NeuroImage, vol.50, issue.3, pp.873-882, 2010. ,
DOI : 10.1016/j.neuroimage.2010.01.011
Fronto-striatal circuitry and inhibitory control in autism: Findings from diffusion tensor imaging tractography, Cortex, vol.48, issue.2, 2011. ,
DOI : 10.1016/j.cortex.2011.05.018