| Titolo |
Pubblicato in |
Anno |
| Italian recommendations for diagnosis and management of congenital myasthenic syndromes |
NEUROLOGICAL SCIENCES |
2019 |
| Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study |
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION |
2019 |
| MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients |
JOURNAL OF NEUROLOGY |
2019 |
| Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy |
JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY |
2019 |
| A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy |
DISEASE MODELS & MECHANISMS |
2019 |
| Dusty core disease (DuCD): expanding morphological spectrum of RYR1 recessive myopathies |
ACTA NEUROPATHOLOGICA COMMUNICATIONS |
2019 |
| Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study |
JOURNAL OF THE NEUROLOGICAL SCIENCES |
2019 |
| Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis (Quality of Life Research, (2019), 28, 8, (2247-2254), 10.1007/s11136-019-02148-2) |
QUALITY OF LIFE RESEARCH |
2019 |
| Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study |
JOURNAL OF THE NEUROLOGICAL SCIENCES |
2019 |
| A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre |
JOURNAL OF NEUROLOGY |
2018 |
| Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD |
ACTA NEUROPATHOLOGICA COMMUNICATIONS |
2018 |
| Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation |
CLINICAL NEUROPHYSIOLOGY |
2018 |
| Lipid Myopathies |
JOURNAL OF CLINICAL MEDICINE |
2018 |
| Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome |
AMERICAN JOURNAL OF MEDICAL GENETICS. PART A |
2018 |
| Long term follow-up of cerebrovascular abnormalities in late onset pompe disease (LOPD) |
JOURNAL OF NEUROLOGY |
2017 |
| Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity |
THE JOURNAL OF CLINICAL INVESTIGATION |
2017 |
| Recessive MYPN mutations cause cap myopathy with occasional nemaline rods |
ANNALS OF NEUROLOGY |
2017 |
| Muscle MRI in neutral lipid storage disease (NLSD) |
JOURNAL OF NEUROLOGY |
2017 |
| Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN). a phase 3, randomised, double-blind, placebo-controlled, multicentre study |
LANCET NEUROLOGY |
2017 |
| Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients |
ORPHANET JOURNAL OF RARE DISEASES |
2017 |
