Marcello Villanova

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 361 citations · Full text

Mitochondrial Myopathy, Mendelian Disorder, Classical Phenotype +9

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

Catia Andreassi, Carla Angelozzi, Francesco Danilo Tiziano et al. · European Journal of Human Genetics · 2003 · 257 citations

Muscle Function, Molecular Physiology, Skeletal Muscle +5

Reliability of the North Star Ambulatory Assessment in a multicentric setting

Elena Mazzone, Sonia Messina, Gessica Vasco et al. · Neuromuscular Disorders · 2009 · 221 citations

Reliability, Quality Of Life, Reliability Analysis +9

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

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

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael M. Duff, Valerie S. Tay, Peter Hackman et al. · The American Journal of Human Genetics · 2011 · 140 citations · Full text

Mechanobiology, Filamin C Cause, N-terminal Actin-binding Domain +7