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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
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study
Trucco F, Ridout D, Scoto M, et al.
Neurology, 2020
Spinal muscular atrophy - insights and challenges in the treatment era
Mercuri E, Pera MC, Scoto M, et al.
Nature reviews. Neurology, 2020
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials
Silwal A, Sarkozy A, Scoto M, et al.
Annals of clinical and translational neurology, 2020
Clinical Variability in Spinal Muscular Atrophy Type III
Coratti G, Messina S, Lucibello S, et al.
Annals of neurology, 2020
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Spitali P, Zaharieva I, Böhringer S, et al.
European journal of human genetics : EJHG, 2020
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon-Gawinska K, Daron A, Ulinici A, et al.
Developmental medicine and child neurology, 2019
Development of an academic disease registry for spinal muscular atrophy
Mercuri E, Finkel R, Scoto M, et al.
Neuromuscular disorders : NMD, 2019
Revised upper limb module for spinal muscular atrophy: 12 month changes
Pera MC, Coratti G, Mazzone ES, et al.
Muscle & Nerve, 2019, 59, 4, p 426
Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, et al.
Neurology, 2018, e1312
Genetic therapies for inherited neuromuscular disorders
Scoto M, Finkel R, Mercuri E, et al.
The Lancet. Child & adolescent health, 2018, 2, 8, p 600
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
Montes J, McDermott MP, Mirek E, et al.
PLoS ONE, 2018, 13, 6
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function
Salazar R, Salazar R, Montes J, et al.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association, 2018, 30, 3, p 209
Therapeutic approaches for spinal muscular atrophy (SMA)
Scoto M, Finkel RS, Mercuri E, et al.
Gene therapy, 2017, 24, 9, p 514
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 793
Dystrophinopathies and Limb-Girdle Muscular Dystrophies
Domingos J, Sarkozy A, Scoto M, et al.
Neuropediatrics, 2017, 48, 4, p 262
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Ramsey D, Scoto M, Mayhew A, et al.
PLoS ONE, 2017, 12, 2
Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy
Catapano F, Zaharieva I, Scoto M, et al.
Molecular therapy. Nucleic acids, 2016, 5, 7
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials
Mercuri E, Finkel R, Montes J, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 126
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Ricotti V, Mandy WP, Scoto M, et al.
Developmental medicine and child neurology, 2015, Epub, p. 1-8
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Rossor AM, Oates EC, Salter HK, et al.
Brain : a journal of neurology, 2015, 138, Pt 2, p 293
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
van den Bergen JC, Hiller M, Böhringer S, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 10, p 1060
Congenital myopathies : Natural history of a large pediatric cohort
Colombo I, Scoto M, Manzur AY, et al.
Neurology, 2015, 84, 1, p 28
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Scoto M, Rossor AM, Harms MB, et al.
Neurology, 2015, 84, 7, p 668
