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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026184/
https://www.ncbi.nlm.nih.gov/pubmed/32066665
http://dx.doi.org/10.1038/s41398-020-0686-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026184/
https://www.ncbi.nlm.nih.gov/pubmed/32066665
http://dx.doi.org/10.1038/s41398-020-0686-0

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