Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

F. Faletra

h-index 4 View on Semantic Scholar

We have 2 of 20 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Oct 2026

De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

These findings establish MAP2K4 as a Mendelian neurodevelopmental disorder-associated gene and identify impaired JNK signaling as the underlying mechanism and expands the spectrum of JNK pathway disorders and underscores the critical role of JNK signaling in human brain development.

Tomoki T. Nomakuchi, A. Rippert, Sabrina A. Santos-De León et al. · 0 citations
Open access Jul 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Variants in BRSK2, encoding brain specific kinase-2, have recently been associated with an autosomal dominant neurodevelopmental disorder (NDD). We have assembled 52 cases with heterozygous BRSK2 variants and variable neurodevelopmental phenotypes with frequent neuropsychiatric and behavioral symptoms. The variant spec...

Palak Singhal, Tzung-Chien Hsieh, Nadja Ehmke et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.