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Valentina Galassi Deforie

4PUBLICATIONS
42CO-AUTHORS
Cell and nuclear divisionGenome structure and regulationNeurology and neuromuscular diseases
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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 <i>RFC1</i> Repeat Expansions.

Stefano Facchini, Natalia Dominik, Arianna Manini

|Nov 01, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 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

Frequent Collaborators

2 joint publications

Stephanie Efthymiou

2 joint publications

Elena Abati

2 joint publications

Henry Houlden

1 joint publications

Pasquale Striano

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