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Novel TRIM32 mutation in sarcotubular myopathy
Panicucci C, Traverso M, Baratto S, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1
Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial
Trucco F, Pedemonte M, Racca F, et al.
Journal of telemedicine and telecare, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese M, Torella A, Musumeci O, et al.
Neuromuscular disorders : NMD, 2018
Clinical and molecular consequences of exon 78 deletion in DMD gene
Traverso M, Assereto S, Baratto S, et al.
Journal of human genetics, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Panicucci C, Fiorillo C, Moro F, et al.
JIMD reports, 2018, 38, p 23
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci D, Angelini C, Bertini E, et al.
Journal of neurology, 2017, 264, 8, p 1777
The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
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
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy
Papa R, Madia F, Bartolomeo D, et al.
Pediatric neurology, 2016, 55, p 58
Respiratory pattern in a FSHD pediatric population
Trucco F, Pedemonte M, Fiorillo C, et al.
Respiratory medicine, 2016, 119, p 78
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease
Varsani H, Charman SC, Li CK, et al.
Annals of the rheumatic diseases, 2015, 74, 1, p. 204-210
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
Vaccination recommendations for patients with neuromuscular disease
Esposito S, Bruno C, Berardinelli A, et al.
Vaccine, 2014, 32, 45, p 5893
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
Ramachandran N, Munteanu I, Wang P, et al.
Acta neuropathologica, 2013, 125, 3, p 439
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Mancuso M, Orsucci D, Angelini C, et al.
Neurology, 2013, 80, 22, p. 2049-2054
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
Bello L, Piva L, Barp A, et al.
Neurology, 2012, 79, 2, p. 159-162
Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare. An international multicenter PRINTO study
Hasija R, Pistorio A, Ravelli A, et al.
Arthritis and rheumatism, 2011, 63, 10, p. 3142-3152
Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations
Cacciottolo M, Numitone G, Aurino S, et al.
European journal of human genetics, 2011, 19, 9, p. 974-980
Caveolinopathies : translational implications of caveolin-3 in skeletal and cardiac muscle disorders
Gazzero E, Bonetto A, Minetti C
Handbook of Clinical Neurology (Muscular Dystrophies), 2011, 101, 3rd series, cha, p. 135-142, p. 10
Quality of life in Duchenne Muscular Dystrophy : Subjective impact on children and parents
Baiardini I, Minetti C, Bonifacio S, et al.
Journal of child neurology, 2011, 26, 6, p. 707-713
