Emanuela Abiusi

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

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

Roddy Walsh, Arnon Adler, Ahmad S. Amin et al. · European Heart Journal · 2021 · 126 citations · Full text

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerrière, Dana Jaber, Emanuela Abiusi et al. · Journal of Medical Genetics · 2021 · 62 citations · Full text

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

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