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Francesca Pantaleoni

5PUBLICATIONS

41CO-AUTHORS

Medical infection agents (incl. prions)Neurology and neuromuscular diseasesGene and molecular therapyHaematology

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Publications (5)

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|Apr 14, 2023

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Manuela Priolo, Erika Zara, Francesca Clementina Radio

|Nov 11, 2022

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Giulia Fasano, Valentina Muto, Francesca Clementina Radio

|Oct 21, 2020

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Julia Brinkmann, Christina Lissewski, Valentina Pinna

|Aug 14, 2020

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

Christina Lissewski, Valérie Chune, Francesca Pantaleoni

|Oct 12, 2019

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Michael T Lam, Simona Coppola, Oliver H F Krumbach

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Frequent Collaborators

5 joint publications

Marco Tartaglia

3 joint publications

Francesca Clementina Radio

2 joint publications

Yoann Vial

2 joint publications

Simona Coppola

2 joint publications

Erika Zara

2 joint publications

Julia Brinkmann

2 joint publications

Martin Zenker

2 joint publications

Alessandro De Luca

2 joint publications

Hélène Cave

2 joint publications

Christina Lissewski

Frequent Collaborators

5 joint publications

Marco Tartaglia

3 joint publications

Francesca Clementina Radio

2 joint publications

Yoann Vial

2 joint publications

Simona Coppola

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