Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Ricci G, Mele F, Govi M, et al.
Scientific Reports, 2020, 10, 1, p 21648
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
Ruggiero L, Mele F, Manganelli F, et al.
JAMA network open, 2020, 3, 5
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
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Nikolic A, Jones TI, Govi M, et al.
International Journal of molecular sciences, 2020, 21, 7, p 2635
Psychosocial impact of sport activity in neuromuscular disorders
Vita GL, Stancanelli C, La Foresta S, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
A 5-year clinical follow-up study from the Italian National Registry for FSHD
Vercelli L, Mele F, Ruggiero L, et al.
Journal of neurology, 2020
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
Physiological aspects of muscular adaptations to training translated to neuromuscular diseases
Berardinelli A, D'Antona G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 4, p 197
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
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
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
Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
Ricci F, Brusa C, Rossi F, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2018, 22, 6, p 1103
Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy
Pichiecchio A, Alessandrino F, Bortolotto C, et al.
Neuromuscular disorders : NMD, 2018
MRI in sarcoglycanopathies: a large international cohort study
Tasca G, Monforte M, Diaz-Manera J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 1, p 72
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane M, Coratti G, Brogna C, et al.
PLoS ONE, 2018, 13, 6
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
Nikolic A, Ricci G, Sera F, et al.
BMJ Open, 2016, 6, 1
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
Ricci G, Ruggiero L, Vercelli L, et al.
Journal of neurology, 2016, 263, 6, p 1204
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
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, et al.
JAMA Neurology, 2015, Epub
Prevalence of congenital muscular dystrophy in Italy : A population study
Graziano A, Bianco F, D'Amico A, et al.
Neurology, 2015, 84, 9, p 904
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
Pane M, Fanelli L, Mazzone ES, et al.
Neuromuscular disorders : NMD, 2015, 25, 10, p 749
Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I-III : Actes de colloque - 1st Italian SMA Family Association Consensus Meeting - Rome, Italy, 30-31 January 2015
Sansone VA, Racca F, Ottonello G, et al.
Neuromuscular disorders : NMD, 2015, 25, 12, p 979
Early Neurodevelopmental Findings Predict School Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study
Chieffo D, Brogna C, Berardinelli A, et al.
PLoS ONE, 2015, 10, 8
