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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
Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up
Vio R, Zorzi A, Bello L, et al.
Heart rhythm, 2020
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
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Perrin A, Metay C, Villanova 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
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
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM)
Lenzoni S, Bozzoni V, Burgio F, et al.
Cortex; a journal devoted to the study of the nervous system and behavior, 2020, 127, p 58
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis
Magri F, Brusa R, Bello L, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 67
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism
Chivet M, Marchioretti C, Pirazzini M, et al.
Cells, 2020, 9, 2
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
Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis
Costa R, Rodia MT, Vianello S, et al.
Neuromuscular disorders : NMD, 2020, 30, 8, p 685
Cored in the act: the use of models to understand core myopathies
Fusto A, Moyle LA, Gilbert PM, et al.
Disease models & mechanisms, 2019, 12, 12
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1
Cona G, Casagrande A, Lenzoni S, et al.
Journal of the International Neuropsychological Society : JINS, 2019
Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy
Vitiello L, Tibaudo L, Pegoraro E, et al.
International Journal of molecular sciences, 2019, 20, 23
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
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
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
Italian recommendations for the diagnosis and treatment of myasthenia gravis
Evoli A, Antonini G, Antozzi C, et al.
Neurological sciences, 2019, 40, 6, p 1111
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
FSHD1 and FSHD2 form a disease continuum
Sacconi S, Briand-Suleau A, Gros M, et al.
Neurology, 2019, 92, 19
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
