Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

doi:10.1002/ana.26788

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Article

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

Annals of neurology - 1 Dec 2023

Ricci Martina, Cicala Gianpaolo, Capasso Anna, Coratti Giorgia, Fiori Stefania, Cutrona Costanza, D'Amico Adele, Sansone Valeria A, Bruno Claudio, Messina Sonia, Mongini Tiziana, Coccia Michela, Siciliano Gabriele, Pegoraro Elena, Masson Riccardo, Filosto Massimiliano, Comi Giacomo P, Corti Stefania, Ronchi Dario, Maggi Lorenzo, D'Angelo Maria G, Vacchiano Veria, Ticci Chiara, Ruggiero Lucia, Verriello Lorenzo, Ricci Federica S, Berardinelli Angela L, Maioli Maria Antonietta, Garibaldi Matteo, Nigro Vincenzo, Previtali Stefano C, Pera Maria Carmela, Tizzano Eduardo, Pane Marika, Tiziano Francesco Danilo, Mercuri Eugenio

Abstract excerpt

OBJECTIVE: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. METHODS: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). RESULTS: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2...

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PMID: 37695206
DOI: 10.1002/ana.26788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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