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Long-term follow-up of patients with Type 2 and non-ambulant Type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Muntoni F, Bertini E, Comi G, et al.
Neuromuscular disorders : NMD, 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
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Maggi L, Bello L, Bonanno S, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
Brogna C, Cristiano L, Verdolotti T, et al.
Journal of neurology, 2019
Screening for later-onset Pompe's disease in patients with paucisymptomatic hyperCKemia
Spada M, Porta F, Vercelli L, et al.
Molecular genetics and metabolism, 2013, 109, 2, p. 171-173
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
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
Restoring cell-basal lamina interaction to rescue tissued egeneration in congenital muscular dystrophy
Domi T, Porrello E, Velardo D, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 55
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis
Benedetti S, Previtali SC, Coviello S, et al.
Archives of neurology, 2010, 67, 12, p. 1498-1505
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
Design of a clinical trial for risk stratification for primary prevention of sudden death in lamin A/C mutated patients
Benedetti S, Sacco F, Zerbini G, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 255
Restoring cell-basal lamina interaction to rescue tissue degeneration in congenital muscular dystrophy
Porrello E, Capotondo A, Triolo D, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 475
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
Benedetti S, Menditto I, Degano M, et al.
Neurology, 2007, 69, 12, p. 1285-1292
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
Benedetti S, Bertini E, Iannaccone S, et al.
Journal of neurology, neurosurgery and psychiatry, 2005, 76, 7, p. 1019-1021
Dominant lamin A/C gene mutations can be associated with muscular dystrophy and peripheral neuropathy
Benedetti S, Previtali S, Toniolo D, et al.
Journal of the peripheral nervous system, 2004, 9, 2, p. 104-125
Short-term brain volume change in relapsing-remitting multiple sclerosis: effect of glatiramer acetate and implications
Rovaris M, Comi G, Rocca MA, et al.
Brain, 2001, 124, Pt 9, p. 1803-1812
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies
Bardoni A, Felisari G, Sironi M, et al.
Neuromuscular disorders : NMD, 2000, 10, 3, p. 194-199
Repeatability of surface EMG variables during voluntary isometric contractions of the biceps brachii muscle
Rainoldi A, Galardi G, Maderna L, et al.
Journal of electromyography and kinesiology, 1999, 9, 2, p. 105-119
Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia
Manning BM, Quane KA, Lynch PJ, et al.
Human mutation, 1998, 11, p. 45-50
The influence of coenzyme Q10 on total serum calcium concentration in two patients with Kearns-Sayre syndrome and hypoparathyroidism
Papadimitriou A, Hadjigeorgiou GM, Divari R, et al.
Neuromuscular disorders : NMD, 1996, 6, 1, p. 49-53
Heterogeneity of autoantibodies in Stiff-man syndrome.
Grimaldi LME, Martino G, Braghi S, et al.
Annals of neurology, 1993, 34, 1,,>, p. 57-
Multicenter trial with ubidecarenone : treatment of 44 patients with mitochondrial myopathies
Scarlato G, Bresolin N, Moroni I, et al.
Revue neurologique (Paris), 1991, 147, 6-7, p. 542-548
Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10
Bresolin N, Bet L, Binda A, et al.
Neurology, 1988, 38, 6, p. 892-899
