Eduardo F. Tizzano

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Richard S. Finkel, Eugenio Mercuri, Basil T. Darras et al. · New England Journal of Medicine · 2017 · 2.3K citations · Full text

Medicine, Genetics, Neurology +17

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Maite Calucho, Sara Bernal, Laura Alías et al. · Neuromuscular Disorders · 2018 · 506 citations

Life Sciences, Genetics, Human Genetics +13

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano et al. · Nature Genetics · 1995 · 217 citations

Life Sciences, Genetics, Molecular Genetics +15

Neurofilament as a potential biomarker for spinal muscular atrophy

Basil T. Darras, Thomas O. Crawford, Richard S. Finkel et al. · Annals of Clinical and Translational Neurology · 2019 · 207 citations · Full text

Medicine, Neurology, Neuroscience +17

Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 172 citations

Medicine, Pediatrics, Preventive Medicine +12