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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Ricci G, Mele F, Govi M, et al.
Scientific Reports, 2020, 10, 1, p 21648
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy
Rodolico C, Politano L, Portaro S, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
Ruggiero L, Mele F, Manganelli F, et al.
JAMA network open, 2020, 3, 5
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Nikolic A, Jones TI, Govi M, et al.
International Journal of molecular sciences, 2020, 21, 7, p 2635
Rituximab in AChR subtype of myasthenia gravis: systematic review
Di Stefano V, Lupica A, Rispoli MG, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
A 5-year clinical follow-up study from the Italian National Registry for FSHD
Vercelli L, Mele F, Ruggiero L, et al.
Journal of neurology, 2020
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy
Galimberti V, Tironi R, Lerario A, et al.
European journal of neurology, 2019
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial
Hanna MG, Badrising UA, Benveniste O, et al.
The Lancet. Neurology, 2019, 18, 9, p 834
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
Toscano A, Rodolico C, Musumeci O
Annals of translational medicine, 2019, 7, 13, p 284
Italian recommendations for the diagnosis and treatment of myasthenia gravis
Evoli A, Antonini G, Antozzi C, et al.
Neurological sciences, 2019, 40, 6, p 1111
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
Vita G, Vita GL, Musumeci O, et al.
Neurological sciences, 2019, 40, 4, p 671
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Maggi L, Bernasconi P, D'Amico A, et al.
Neurological sciences, 2019, 40, 3, p 457
Elevated TGF Beta2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes
Bernasconi P, Carboni N, Ricci G, et al.
Nucleus (Austin, Tex.), 2018, 9, 1, p 292
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
Nikolic A, Ricci G, Sera F, et al.
BMJ Open, 2016, 6, 1
Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Scotton C, Bovolenta M, Schwartz E, et al.
Journal of cell science, 2016, 129, 8, p 1671
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
Ricci G, Ruggiero L, Vercelli L, et al.
Journal of neurology, 2016, 263, 6, p 1204
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls
Rodolico C, Parisi D, Portaro S, et al.
Journal of Neuromuscular Diseases, 2016, 3, 3, p 413
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, 87, 1, p 71
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study
Messina S, Vita GL, Sframeli M, et al.
Neuromuscular disorders : NMD, 2016, 26, 3, p 189
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, Musumeci O, Giugliano T, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p. 292-299
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Montagnese F, Barca E, Musumeci O, et al.
Journal of neurology, 2015, 262, 4, p 968
Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?
Musumeci O, Brady S, Rodolico C, et al.
Journal of neurology, 2014, 261, 12, p 2424
LMNA-associated myopathies : The Italian experience in a large cohort of patients
Maggi L, D'Amico A, Pini A, et al.
Neurology, 2014, 83, 18, p 1634
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
Ricci G, Scionti I, Sera F, et al.
Brain, 2013, 136, 11, p. 3408-3417
