| Titolo |
Pubblicato in |
Anno |
| 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 |
| A mobile app for patients with Pompe disease and its possible clinical applications |
NEUROMUSCULAR DISORDERS |
2018 |
| Subcutaneous immunoglobulin for maintenance treatment in chronic inflammatory demyelinating polyneuropathy (PATH). a randomised, double-blind, placebo-controlled, phase 3 trial |
LANCET 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 |
| Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP database |
JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY |
2018 |
| Regional variation of Guillain-Barré syndrome |
BRAIN |
2018 |
| Intravenous versus subcutaneous immunoglobulin – authors' reply |
LANCET NEUROLOGY |
2018 |
| Widening the phenotypical spectrum of EGR2-related CMT: unusual phenotype for R409W mutation |
CLINICAL NEUROPHYSIOLOGY |
2018 |
| Lipid Myopathies |
JOURNAL OF CLINICAL MEDICINE |
2018 |
| Long term follow-up of cerebrovascular abnormalities in late onset pompe disease (LOPD) |
JOURNAL OF NEUROLOGY |
2017 |
| Muscle MRI in neutral lipid storage disease (NLSD) |
JOURNAL OF NEUROLOGY |
2017 |
| International Guillain-Barré syndrome outcome study: protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome |
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM |
2017 |
| Plasma-exchange responsive delayed pseudochoreoathetosis in a patient with anti-Hu neuronopathy |
MOVEMENT DISORDERS CLINICAL PRACTICE |
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 |
| Protein misfolding, amyotrophic lateral sclerosis and guanabenz. Protocol for a phase II RCT with futility design (ProMISe trial) |
BMJ OPEN |
2017 |
| Novel dominant mutation in BIN1 gene causing mild centronuclear myopathy revealed by myalgias and CK elevation |
JOURNAL OF NEUROMUSCULAR DISEASES |
2016 |
| A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes |
JOURNAL OF NEUROLOGY |
2016 |
| Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors |
JOURNAL OF NEUROLOGY |
2016 |
| Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry |
BMJ OPEN |
2016 |
| An age standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy |
NEUROEPIDEMIOLOGY |
2016 |
