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Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy
Sergott RC, Amorelli GM, Baranello G, et al.
Annals of clinical and translational neurology, 2020
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
Evaluation of body composition as a potential biomarker in spinal muscular atrophy
Baranello G, De Amicis R, Arnoldi MT, et al.
Muscle & Nerve, 2020
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients
Bonanno S, Marcuzzo S, Malacarne C, et al.
Biomedicines, 2020, 8, 2
Reply to: Limited Assessment of Respiratory Muscle Response to Nusinersen Treatment in Infants with Spinal Muscular Atrophy
Lomauro A, Mastella C, Alberti K, et al.
American journal of respiratory and critical care medicine, 2019
3D Facial morphology in children affected by spinal muscular atrophy type 2 (SMAII)
Pucciarelli V, Gibelli D, Mastella C, et al.
European journal of orthodontics, 2019
Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy
Lomauro A, Mastella C, Alberti K, et al.
American journal of respiratory and critical care medicine, 2019
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Deguise MO, Baranello G, Mastella C, et al.
Annals of clinical and translational neurology, 2019, 6, 8, p 1519
Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Brogna C, Coratt G, Pane M, et al.
PLoS ONE, 2019, 14, 7
Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3.
Baranello G, Vai S, Broggi F, et al.
Neuromuscular disorders : NMD, 2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Brogna C, Coratti G, Pane M, et al.
PLoS ONE, 2019, 14, n6
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene
Marchet S, Marchet S, Invernizzi F, et al.
Mitochondrion, 2019, 47, p 24
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
Tiziano FD, Tiziano FD, Lomastro R, et al.
Journal of medical genetics, 2018
Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy
Pichiecchio A, Alessandrino F, Bortolotto C, et al.
Neuromuscular disorders : NMD, 2018
Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions
Battini R, Chieffo D, Bulgheroni S, et al.
Neuromuscular disorders : NMD, 2018, 28, 2, p 122
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
Vicari S, Piccini G, Mercuri E, et al.
PLoS ONE, 2018, 13, 1
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane M, Coratti G, Brogna C, et al.
PLoS ONE, 2018, 13, 6
Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?
Bertoli S, De Amicis R, Mastella C, et al.
Clinical nutrition (Edinburgh, Scotland), 2017, 36, 6, p 1674
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
Guglieri M, Bushby K, McDermott MP, et al.
Contemporary clinical trials, 2017, 58, p 34
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Böhm J, Bulla M, Urquhart JE, et al.
Human mutation, 2017, 38, 4, p 426
Sleep disorders in spinal muscular atrophy
Pera MC, Romeo DM, Graziano A, et al.
Sleep medicine, 2017, 30, p 160
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
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
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy
Mercuri E, Coratti G, Messina S, et al.
PLoS ONE, 2016, 11, 8
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Baranello G, Saredi S, Sansanelli S, et al.
Neuromuscular disorders : NMD, 2015, 25, 1, p 55
