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 · 729 citations

Intramitochondrial Iron Deposits, Sensory Nerve Defect, Iron Metabolism +9

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi et al. · Nature Genetics · 2012 · 417 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +8

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

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 · 243 citations · Full text

Psychiatry, Autism Spectrum Disorders, Syndromic Autism +9

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

Skeletal Muscle Leads, Muscle Function, Pathology +16