Monica Traverso

5PUBLICATIONS
51CO-AUTHORS
NeonatologyIberian languagesNeurology and neuromuscular diseasesMedical bacteriologyMedical infection agents (incl. prions)
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Publications (5)

|Jul 18, 2026
Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.

|Oct 29, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fernanda Fortunato, Laura Fiocco, Alice Margutti

|Nov 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Lein N H Dofash, Lee B Miles, Yoshihiko Saito

|Nov 05, 2024
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.

Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi

|Aug 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.

Claire G Salter, Yiying Cai, Bernice Lo

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Frequent Collaborators

2 joint publications

Luisa Politano

2 joint publications

Federica Ricci

2 joint publications

Elena Pegoraro

1 joint publications

Guy Helman