Autismus

Leitlinien

Selbsthilfe, Interessenvereinigungen

Literatur

The Genes Underlying Autism Are Coming Into Focus – Artikel in “The Scientist” von Megan Scudellari, veröffentlich online: August 1, 2016.

Aus diesem Artikel: References:

R. Bernier et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell, 158:263-76, 2014.
B.J. O’Roak et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485:246-50, 2012.
B.J. O’Roak et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science, 338:1619-22, 2012.
E. Hanson et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained Population. Biol Psychiatry, 77:785-93, 2015.
I. Iossifov et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515:216-21, 2014.
X. Zhao et al. A unified genetic theory for sporadic and inherited autism. PNAS, 104:12831-36, 2007.
I. Iossifov et al. Low load for disruptive mutations in autism genes and their biased Transmission. PNAS, 112:E5600-07, 2015.
J. Mariani et al. FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders. Cell, 162:375-90, 2015.
L. Brun et al. Localized misfolding within Broca’s area as a distinctive feature of autistic disorder. Biol Psychiatry Cogn Neurosci Neuroimaging, 1:160-68, 2016.
W.W. Lewis et al. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex, 23:1526-32, 2013.

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