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Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis
Dolci C, Sansone VA, Gibelli D, et al.
American journal of medical genetics. Part A, 2020
Respiratory function and therapeutic expectations in DMD: families experience and perspective
Brogna C, Lucibello S, Coratti G, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 3, p 121
Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report
Sansone VA, Walter MC, Attarian S, et al.
Journal of Neuromuscular Diseases, 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
Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
Mazzanti A, Guz D, Trancuccio A, et al.
Journal of the American College of Cardiology, 2020, 75, 15, p 1772
Guidelines on clinical presentation and management of non-dystrophic myotonias
Stunnenberg B, LoRusso S, Arnold WD, et al.
Muscle & Nerve, 2020
Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA
Mercuri E, Messina S, Montes J, et al.
Neuromuscular disorders : NMD, 2020
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera MC, Coratti G, Berti B, et al.
PLoS ONE, 2020, 15, 3
Screening for early symptoms of respiratory involvement in myotonic dystrophy type 1 using the Respicheck questionnaire
De Mattia E, Lizio A, Falcier E, et al.
Neuromuscular disorders : NMD, 2020
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
Sansone VA, Pirola A, Albamonte E, et al.
The Journal of pediatrics, 2020
Sometimes they come back: new and old SMA adults in the era of nusinersen
Sansone VA, Coratti G, Pera MC, et al.
European journal of neurology, 2020
Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up
Barp A, Carraro E, Albamonte E, et al.
Journal of the neurological sciences, 2020, 417
Gain and loss of abilities in type II SMA: A 12-month natural history study
Coratti G, Lucibello S, Pera MC, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 765
Consensus-Based Care Recommendations for Pulmonologists Treating Adults with Myotonic Dystrophy Type 1
Boentert M, Cao M, Mass D, et al.
Respiration; international review of thoracic diseases, 2020, 99, 4, p 360
Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach
Iolascon G, Vitacca M, Carraro E, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Fragility fractures and bone mineral density in male patients affected by type 1 and type 2 myotonic dystrophy
Passeri E, Passeri E, Sansone VA, et al.
Neuromuscular disorders : NMD, 2019
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
LoRusso S, Johnson NE, McDermott MP, et al.
BMC neurology, 2019, 19, 1, p 224
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study
de Vivo DC, Bertini E, Swoboda KJ, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p. 842
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
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, et al.
Annals of neurology, 2019
Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy
Salmin F, Albamonte E, Morettini V, et al.
Muscle & Nerve, 2019, 59, 6
"Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.
Ambrosini A, Quinlivan R, Sansone VA, et al.
Orphanet journal of rare diseases, 2019, 14, n1, p 126
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
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
Ruhno C, McGovern VL, Avenarius MR, et al.
Human genetics, 2019, 138, 3, p 241
