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M Rinelli

50PUBLICATIONS

195CO-AUTHORS

Cellular nervous systemGenetic immunologyNeurology and neuromuscular diseasesNanoelectronicsNeurogenetics

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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 <i>AP1G1</i> 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 <i>TIM-3</i> Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.

Andrea Ariolli, Emanuele Agolini, Tommaso Mazza

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