Stefania Fiori

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

Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy

Roberto De Sanctis, Marika Pane, Giorgia Coratti et al. · Neuromuscular Disorders · 2017 · 59 citations

Type 1, Rare Diseases, Disease Progression +9

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori et al. · European Journal of Human Genetics · 2009 · 53 citations · Full text

Absolute Real-time Pcr, Autoimmune Disease, Medicine +12

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Francesco Danilo Tiziano, Rosa Lomastro, Lorena Di Pietro et al. · European Journal of Human Genetics · 2012 · 41 citations · Full text

Genetic Epidemiology, Molecular Cross-sectional Study, Biomarkers +9

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in <i><scp>ASAH</scp>1</i>

Guido Rubboli, Pierangelo Veggiotti, Antonella Pini et al. · Epilepsia · 2015 · 39 citations · Full text