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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
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
Maggi L, Brugnoni R, Canioni E, et al.
Frontiers in neurology, 2020, 11, p 646
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
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
Practical approach to respiratory emergencies in neurological diseases
Racca F, Vianello A, Mongini T, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach
Bortolani S, Stura G, Ventilii G, et al.
Neuromuscular disorders : NMD, 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
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
microRNAs as biomarkers in Pompe disease
Tarallo A, Carissimo A, Gatto F, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019, 21, 3, p 591
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
Tiziano FD, Tiziano FD, Lomastro R, et al.
Journal of medical genetics, 2018
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
microRNAs as biomarkers in Pompe disease
Tarallo A, Tarallo A, Carissimo A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
Johnson K, De Ridder W, Töpf A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
Elevated TGF Beta2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes
Bernasconi P, Carboni N, Ricci G, et al.
Nucleus (Austin, Tex.), 2018, 9, 1, p 292
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane M, Coratti G, Brogna C, et al.
PLoS ONE, 2018, 13, 6
