Maria Sframeli

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Maria Carmela Pera, Giorgia Coratti, Nicola Forcina et al. · BMC Neurology · 2017 · 221 citations · Full text

Medicine, Neurology, Rehabilitation Medicine +17

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Eugenio Mercuri, Richard S. Finkel, Jacqueline Montes et al. · Neuromuscular Disorders · 2015 · 215 citations · Full text

Life Sciences, Health Sciences, Medical Genetics +12

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period

Maria Sframeli, Anna Sárközy, Marta Bértoli et al. · Neuromuscular Disorders · 2017 · 131 citations

Medicine, Genetics, Molecular Genetics +15

Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Irina Zaharieva, Michael G. Thor, Emily C. Oates et al. · Brain · 2015 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data

Marika Pane, Giorgia Coratti, Valeria Sansone et al. · Annals of Neurology · 2019 · 124 citations

Medicine, Neurology, Neuromuscular Disorders +11