Stefania Magri

6PUBLICATIONS
62CO-AUTHORS
Medical infection agents (incl. prions)Medical molecular engineering of nucleic acids and proteinsContext learningOral medicine and pathologyNeurogenetics
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Publications (6)

|Nov 24, 2025
Compound Heterozygous <i>PNKP</i> 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

|Aug 07, 2025
Teaching NeuroImage: Distinctive White Matter Abnormalities in <i>KIF1C</i> Pathogenic Variants.

Veronica Saletti, Mariagiovanna Melillo, Marco Moscatelli

|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 <i>RAB7A</i> 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