Author

A. Pichiecchio

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Case report Open access Oct 2026

TTC21B: From Modifier to Causative Gene in Joubert Syndrome.

Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with...

Valentina Serpieri, F. D'Abrusco, A. Pichiecchio et al. · American Journal of Medical... · 0 citations

Clinical trial Open access Aug 2026

A multidisciplinary multicentric approach to the identification of predictive biomarkers of response to erenumab – the protocol of the phase 4, European, open-label controlled trial of the BIOMIGA project

Background Migraine is a highly prevalent disease and the leading cause of years lived with disability in women. The development of therapies targeting the calcitonin gene-related peptide (CGRP) pathway has provided the first mechanism-based approach for migraine prevention. Although these treatments have demonstrated...

D. Martinelli, E. Caronna, H. Basedau et al. · Frontiers in Neurology · 0 citations