A truncating Aspm allele leads to a complex cognitive phenotype and region-specific reductions in parvalbuminergic neurons

Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly associated (ASPM) gene cause autosomal recessive primary...

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Detalhes bibliográficos
Publicado no:Transl Psychiatry
Main Authors: Garrett, Lillian, Chang, Yoon Jeung, Niedermeier, Kristina M., Heermann, Tamara, Enard, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Angelis, Martin Hrabě de, Huttner, Wieland B., Wurst, Wolfgang, Hölter, Sabine M.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7026184/
https://ncbi.nlm.nih.gov/pubmed/32066665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41398-020-0686-0
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