Spinal muscular atrophy: clinical phenotypes and biomarkers at the time of the new disease modifyig therapies

Project
Spinal muscular atrophy: clinical phenotypes and biomarkers at the time of the new disease modifyig therapies

Overview

Contributors

SANSONE VALERIA ADA MARIA   Scientific Manager  

Departments involved

Type

PRIN2022 - PRIN bando 2022

Funder

MINISTERO DELL'UNIVERSITA' E DELLA RICERCA
External Organization Funding Organization

Date/time interval

October 18, 2023 - February 28, 2026

Project duration

28 months

Publications

Outputs

The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study 
ECLINICALMEDICINE
ELSEVIER
2026
Academic Article
Open Access
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