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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
Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III
Gobbo M, Lazzarini S, Vacchi L, et al.
Case reports in neurological medicine, 2019
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group
Filosto M, Cotti Piccinelli S, Ravaglia S, et al.
Advances in therapy, 2019, 36, 5, p 1177
Muscle pain in mitochondrial diseases: a picture from the Italian network
Filosto M, Cotti Piccinelli S, Lamperti C, et al.
Journal of neurology, 2019, 266, 4, p 953
Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives
Paoletti M, Pichiecchio A, Cotti Piccinelli S, et al.
Frontiers in neurology, 2019, 10
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. 1777-1784
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, Epub, 6 p.
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
Ricci G, Ruggiero L, Vercelli L, et al.
Journal of neurology, 2016, Epub, 12 p.
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study
Filosto M, Filosto M, Aureli M, et al.
European journal of human genetics : EJHG, 2016
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O, la Marca G, Spada M, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, Epub
Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.
Bertoldo F, Zappini F, Brigo M, et al.
The Journal of clinical endocrinology and metabolism, 2015, 100, 2, p. 401-6
Vaccination recommendations for patients with neuromuscular disease.
Esposito S, Bruno C, Berardinelli A, et al.
Vaccine, 2014, 32, 45, p. 5893-900
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P, Saeidi K, Ravaglia S, et al.
Orphanet journal of rare diseases, 2014, 9, 1, 102, p. 1-11
Non-muscle involvement in late-onset glycogenosis II
Filosto M, Todeschini A, Cotelli MS, et al.
Acta myologica, 2013, 32, 2, p. 91-94
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Mancuso M, Orsucci D, Angelini C, et al.
Neurology, 2013, 80, 22, p. 2049-2054
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
Ronchi D, Di Fonzo A, Lin W, et al.
American journal of human genetics (The), 2013, 92, 2, p. 293-300
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
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
Vattemi G, Neri M, Piffer S, et al.
Acta myologica, 2011, 30, 2, p. 121-126
Limb-girdle muscular dystrophy-associated protein diseases
Broglio L, Tentorio M, Cotelli MS, et al.
Neurologist (The), 2010, 16, 6, p. 340-352
Evidence for increased protein nitration in vessel wall of mitochondrial disease patients
Vattemi G, Marini M, Mechref Y, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 344
Chronic ophthalmoplegia in limb-girdle muscular dystrophy 1C
Filosto M, Tonin P, Vattemi G, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 200
Novel mitochondrial tRNA Leu (CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Filosto M, Tonin P, Scarpelli M, et al.
Neuromuscular disorders : NMD, 2008, 18, 3, p. 204-209
Mitochondrial DNA-related disorders
Mancuso M, Filosto M, Choub A, et al.
Bioscience reports, 2007, 27, 1-3, p. 31-37
The role of muscle biopsy in investigating isolated muscle pain
Filosto M, Tonin P, Vattemi G, et al.
Neurology, 2007, 68, 3, p. 181-186
McArdle disease : The mutation spectrum of PYGM in a large Italian cohort
Cassandrini D, Martinuzzi A, Toscano A, et al.
Human mutation, 2006, 27, 7, p. 718
