M Rinelli
50PUBLICATIONS
195CO-AUTHORS
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Publications (50)
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|Dec 18, 2025
A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development.Luisa Weiss, Macarena Pavez, Anastasia Labudina
|Nov 13, 2025
Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model.Valentina Imperatore, Alessandra Mirarchi, Emanuele Agolini
|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat
|Jan 25, 2025
Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.Cristina Cifaldi, Mayla Sgrulletti, Silvia Di Cesare
|Dec 04, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.Alessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi
|Oct 26, 2024
The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.Andrea Ariolli, Emanuele Agolini, Tommaso Mazza
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Frequent Collaborators
8 joint publications
Antonio Novelli
6 joint publications
Maria Lisa Dentici
5 joint publications
Francesca Clementina Radio
5 joint publications
Angela Mastronuzzi
4 joint publications
Maria Cristina Digilio
4 joint publications
Andrea Carai
4 joint publications
Marco Tartaglia
4 joint publications
Maria Antonietta De Ioris
3 joint publications
Evelina Miele
3 joint publications
Marco Castori
