Insight dal profilo multi-omico del liquor di pazienti affetti da atrofia muscolare spinale di tipo 3 in uno studio retrospettivo multicentrico

Challenges of assessing swallowing and feeding in Spinal Muscular Atrophy (SMA) type 1: a pilot study comparing available tools, nutritional and instrumental evaluations

Nuovi fenotipi SMA 1 dopo l’introduzione dei trattamenti farmacologici: il caso clinico di una paziente trattata con Risdiplam

Neurocognitive profile of a cohort of SMA type 1 pediatric patients and emotional aspects, resilience and coping strategies of their caregivers

Sequential Treatment with Nusinersen, Zolgensma and Risdiplam in a Paediatric Patient with Spinal Muscular Atrophy type 1: A Case Report

Preliminary data on safety and efficacy of risdiplam treatment in a small apulian cohort of adult 5q spinal muscular atrophy

Risdiplam and treatment of SMA in late childhood/adolescence: description of two cases and specific considerations

First oral drug for Spinal Muscular Atrophy: a single centre experience

Pregnancy experience in women with spinal muscular atrophy: an overview in the cohort of the University of Naples “Federico II’’

Risdiplam in type 2 and 3 Spinal Muscular Atrophy: results of a cohort of adult Italian patients

Un passaggio condiviso tra medico e paziente: lo switch terapeutico intratecale-orale nella popolazione SMA adulta e pediatrica

Phenotypic spectrum of three unrelated SMA Italian patients with a compound heterozygosity for a deletion and rare point mutation in SMN1 gene