P Boffi

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina et al. · Neurology · 2006 · 169 citations

Importance of <i>SPP1</i> genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Luca Bello, Luisa Piva, Andrea Barp et al. · Neurology · 2012 · 82 citations · Full text

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Eugenio Mercuri, Sonia Messina, Roberta Battini et al. · Neuromuscular Disorders · 2006 · 79 citations

Lumbar Spine, Spinal Cord Injury, Multicentric Study +10

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Maria Eckart, Ulf‐Peter Guenther, Jan Idkowiak et al. · PEDIATRICS · 2011 · 73 citations

Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia

Marco Spada, Francesco Porta, Liliana Vercelli et al. · Molecular Genetics and Metabolism · 2013 · 57 citations

Later-onset Pompe, Clinical Epidemiology, Hematology +2