Valentina Galassi Deforie
4PUBLICATIONS
42CO-AUTHORS
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Publications (4)
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|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.Beth L Woodward, Sudipta Lahiri, Anoop S Chauhan
|Jan 09, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.Riccardo Currò, Natalia Dominik, Stefano Facchini
|Oct 28, 2023
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.Stefano Facchini, Natalia Dominik, Arianna Manini
|Nov 01, 2022
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou
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Frequent Collaborators
2 joint publications
Stephanie Efthymiou
2 joint publications
Elena Abati
2 joint publications
Henry Houlden
1 joint publications
Pasquale Striano
1 joint publications
Michelle M Morrow
1 joint publications
Andrea Accogli
1 joint publications
P Y Billie Au
1 joint publications
Dimitri M Kullmann
1 joint publications
Roope Männikkö
1 joint publications
Anna Pichiecchio
