| Titolo | Pubblicato in | Anno |
|---|---|---|
| Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation | JOURNAL OF NEUROMUSCULAR DISEASES | 2016 |
| Teaching video neuro images. the beevor sign in late-onset pompe disease | NEUROLOGY | 2016 |
| A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis | CLINICAL GENETICS | 2016 |
| Muscle MRI in neutral lipid storage disease (NLSD) | NEUROMUSCULAR DISORDERS | 2016 |
| Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1 | NEUROMUSCULAR DISORDERS | 2016 |
| LOPED study. looking for an early diagnosis in a late-onset pompe disease high-risk population | JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY | 2015 |
| Dropped-head in recessive oculopharyngeal muscular dystrophy | NEUROMUSCULAR DISORDERS | 2015 |
| Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation | NEUROMUSCULAR DISORDERS | 2015 |
© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma
