Raffaella Violano
University of Milan(IT)Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico(IT)Ospedale Maggiore(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Neurogenetic and Muscular Disorders Research, Glycogen Storage Diseases and Myoclonus, Muscle Physiology and Disorders, Inflammatory Myopathies and Dermatomyositis
Most-Cited Works
- → Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy(2015)132 cited
- → ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy(2017)98 cited
- → Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation(2019)55 cited
- → Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis(2016)52 cited
- → Novel CLN3 mutation causing autophagic vacuolar myopathy(2014)41 cited
- → Glycogen storage disease type III: A novel Agl knockout mouse model(2014)35 cited
- → Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)