Francesco Danilo Tiziano

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio, Delphine Simon, Mireille Cossée et al. · Nature Genetics · 2001 · 738 citations

Medicine, Neurology, Neuroscience +17

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 423 citations · Full text

Life Sciences, Genetics, Neurology +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

Life Sciences, Neuroscience, Pharmacology +6

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Luigi Boccuto, Maria Lauri, Sara M. Sarasua et al. · European Journal of Human Genetics · 2012 · 248 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Deletion of Murine <i>SMN</i> Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

Carmen Cifuentes-Díaz, Tony Frugier, Francesco Danilo Tiziano et al. · The Journal of Cell Biology · 2001 · 233 citations · Full text

Medicine, Genetics, Neurology +17