Michele Sacchini
Meyer Children's Hospital(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Trypanosoma species research and implications
Most-Cited Works
- → Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes(2014)151 cited
- → 24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy(2013)130 cited
- → 6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes(2014)93 cited
- → Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy(2018)89 cited
- → A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy(2014)89 cited
- → Next-generation sequencing approach to hyperCKemia(2019)45 cited
- → Mitochondrial Encephalomyopathy Due to a Novel Mutation inACAD9(2013)43 cited
- → Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies(2023)41 cited
- → Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis(2022)37 cited
- → Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening(2022)37 cited