Literature DB >> 32196122

A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome.

Zahraa Haidar1,2, Nadine Jalkh1, Sandra Corbani1, Joelle Abou-Ghoch1, Ali Fawaz3, Cybel Mehawej1, Eliane Chouery1.   

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Year:  2020        PMID： 32196122     DOI： 10.1002/mds.28023

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  2 in total

Review 1.  Role of phosphodiesterases in the pathophysiology of neurodevelopmental disorders.

Authors:  Sébastien Delhaye; Barbara Bardoni
Journal:  Mol Psychiatry       Date:  2021-01-07       Impact factor: 15.992

2.  Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder.

Authors:  Barbara Bardoni; Viviana Trezza; Sara Schiavi; Emilia Carbone; Francesca Melancia; Alessandra di Masi; Marielle Jarjat; Fréderic Brau; Silvia Cardarelli; Mauro Giorgi
Journal:  Transl Psychiatry       Date:  2022-03-25       Impact factor: 6.222
  2 in total

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