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Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Bello L, D'Angelo G, Villa M, et al.
Annals of clinical and translational neurology, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Neri M, Rossi R, Trabanelli C, et al.
Frontiers in Genetics, 2020, 11, p 131
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
Maggi L, Brugnoni R, Canioni E, et al.
Frontiers in neurology, 2020, 11, p 646
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane M, Coratti G, Brogna C, et al.
PLoS ONE, 2018, 13, 6
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study
Mazzone ES, Coratti G, Sormani MP, et al.
PLoS ONE, 2016, 11, 3
Prevalence of congenital muscular dystrophy in Italy : A population study
Graziano A, Bianco F, D'Amico A, et al.
Neurology, 2015, 84, 9, p 904
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
Pane M, Fanelli L, Mazzone ES, et al.
Neuromuscular disorders : NMD, 2015, 25, 10, p 749
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
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.
Pane M, Mazzone ES, Fanelli L, et al.
Neuromuscular disorders : NMD, 2014, 24, 3, p. 201-206
The 6 minute walk test and performance of upper limb in ambulant Duchenne Muscular Dystrophy boys
Pane M, Mazzone ES, Sivo S, et al.
PLoS Currents, 2014, 6
6 minute walk test in duchenne MD patients with different mutations : 12 month changes
Pane M, Mazzone ES, Sormani MP, et al.
PLoS ONE, 2014, 9, 1, e83400, p. 1-7
Long term natural history data in ambulant boys with Duchenne Muscular Dystrophy: 36 month changes
Pane M, Mazzone ES, Sivo S, et al.
PLoS ONE, 2014, 9, 10
24 month longitudinal data in ambulant boys with duchenne muscular dystrophy
Mazzone ES, Pane M, Sormani MP, et al.
PLoS ONE, 2013, 8, 1, e52512, 6 p.
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
Brioschi S, Gualandi F, Scotton C, et al.
BioMed Central medical genetics, 2012, 13, 1, 73, p. 1-15
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
Pane M, Messina S, Vasco G, et al.
Neuromuscular disorders : NMD, 2012, 22, 8, p. 685-689
Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies
Lattanzi G, Benedetti S, Bertini E, et al.
Acta myologica, 2011, 30, 2, p. 138-143
Functional changes in Duchenne muscular dystrophy: A 12-month longitudinal cohort study
Mazzone E, Vasco G, Sormani MP, et al.
Neurology, 2011, 77, 3, p. 250-256
Congenital muscular dystrophies with cognitive impairment. A population study
Messina S, Moroni I, Pegoraro E, et al.
Neurology, 2010, 75, 10, p. 898-903
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR
Tiziano FD, Pinto AM, Fiori S, et al.
European journal of human genetics, 2010, 18, 1, p. 52-58
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study
Mercuri E, Messina S, Mora M, et al.
Neurology, 2009, 72, 21, p. 1802-1809
Reliability of the North star ambulatory assessment in a multicentric setting
Mazzone ES, Messina S, Vasco G, et al.
Neuromuscular disorders : NMD, 2009, 19, 7, p. 458-461
POMT1 and POMT2 mutations in CMD patients : a multicentric Italian study
Messina S, Mora M, Pegoraro E, et al.
Neuromuscular disorders : NMD, 2008, 18, 7, p. 565-571
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
Mercuri E, Bertini E, Messina S, et al.
Neurology, 2007, 68, 1, p. 51-55
The Hammersmith functional score correlates with the SMN2 copy number : a multicentric study
Tiziano FD, Bertini E, Messina S, et al.
Neuromuscular disorders : NMD, 2007, 17, 5, p. 400-403
High plasma creatine kinase : review of the literature and proposal for a diagnostic algorithm
Morandi L, Angelini C, Prelle A, et al.
Neurological sciences, 2006, 27, 5, p. 303-311
