Stefania Magri
6PUBLICATIONS
62CO-AUTHORS
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Publications (6)
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|Nov 24, 2025
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.Francesca Ragona, Giuliana Messina, Stefania Magri
|Oct 23, 2025
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.Christian Laurini, Federica Rachele Danti, Massimo Russo
|Feb 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Andrea Cortese, Maike F Dohrn, Riccardo Curro
|Jul 14, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.Natalia Dominik, Stefania Magri, Riccardo Currò
|Apr 25, 2020
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.Paola Saveri, Maria De Luca, Veronica Nisi
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Frequent Collaborators
4 joint publications
Franco Taroni
3 joint publications
Chiara Pisciotta
3 joint publications
Davide Pareyson
2 joint publications
Stefano Tozza
2 joint publications
Andrea Cortese
2 joint publications
Stefano Carlo Previtali
2 joint publications
Henry Houlden
2 joint publications
Mary M Reilly
2 joint publications
Pedro J Tomaselli
1 joint publications
Barbara Castellotti
