Gianni Marrosu
Ospedale degli Infermi(IT)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, RNA modifications and cancer, Neurogenetic and Muscular Disorders Research, Glycogen Storage Diseases and Myoclonus, Muscle Physiology and Disorders
Most-Cited Works
- → Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3(2020)189 cited
- → ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies(2013)105 cited
- → Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1(2015)28 cited
- → Vaccination recommendations for patients with neuromuscular disease(2014)24 cited
- → Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease(2022)16 cited
- → Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group(2019)10 cited
- → A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers(2012)1 cited
- → 6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen(2021)
- → Looking for an Early Diagnosis in a Late Onset Pompe Disease High Risk Population: A LOPED Study (P3.015)(2014)