Raggruppamento Primario: Malattie Neuromuscolari

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Data

Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care

Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016

Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study

Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study

Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded

Validation of the Italian version of the pediatric CMT quality of life outcome measure

Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

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