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 · 2.2K citations · Full text

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 · 486 citations

Sma Type, Clinical Epidemiology, Genetic Epidemiology +5

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

Genetics, Frame–shift Deletion, Degenerative Disease +7

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 · 200 citations · Full text

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 · 164 citations

Early Diagnosis, Rare Diseases, Newborn Screening +7