Author

Pasquale Striano

Primary ORCID profile (0000-0002-6065-1476 · 23 papers)Unclaimed ORCID profile · follow to get notified of new preprints

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Pasquale StrianoiD23 papers · Istituto Giannina Gaslini

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Angela La Neve· 1 shared Nicola Pietrafusa· 1 shared Pedro Rodenas-Cuadrado· 1 shared Sonja Vernes· 1 shared Teresa Francavilla· 1 shared

Activity by Year

2015-2015 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperGenetics

Angela La Neve

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1 paper

Recent·Most cited

GeneticsbioRxivDec 20, 2015

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla…·Sonja Vernes

This paper describes a family with homozygous CNTNAP2 mutations causing CASPR2 deficiency, leading to epilepsy, intellectual disability, language impairment, and autism-like features.

DOI 10.1186/s12881-016-0272-8

humanexperimental assay

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