Tiziana Vitali

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

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Christina Brahe, Tiziana Vitali, Francesco Danilo Tiziano et al. · European Journal of Human Genetics · 2004 · 157 citations · Full text

Molecular Physiology, Genetics, Physiology +5

Pilot trial of phenylbutyrate in spinal muscular atrophy

Eugenio Mercuri, Enrico Bertini, Sonia Messina et al. · Neuromuscular Disorders · 2003 · 134 citations

Applied Physiology, Rehabilitation, Spinal Muscular Atrophy +2

Detection of the Survival Motor Neuron (SMN) Genes by FISH: Further Evidence for a Role for SMN2 in the Modulation of Disease Severity in SMA Patients

Tiziana Vitali, Vesna Sossi, Francesco Danilo Tiziano et al. · Human Molecular Genetics · 1999 · 66 citations

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype

Vittorio Sossi, A. De Giuli, Tiziana Vitali et al. · European Journal of Human Genetics · 2001 · 49 citations · Full text

Exon Skipping, Mendelian Disorder, Genetic Disorder +8