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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
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
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
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
Crow RA, Hart KA, McDermott MP, et al.
Trials, 2018, 19, 1
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis?acting DNA elements that govern muscle dystrophin expression
Gherardi S, Bovolenta M, Passarelli C, et al.
Biochimica et biophysica acta, 2017, 1860, 11, p 1138
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
Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies
Porcelli S, Marzorati M, Morandi L, et al.
Journal of applied physiology (Bethesda, Md. : 1985), 2016, 121, 3, p 699
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
Perceived efficacy of salbutamol by persons with SMA: a mixed methods study
Giovannetti AM, Pasanisi MB, Cerniauskaite M, et al.
Muscle & Nerve, 2016, 54, 5, p 843
The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
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
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, et al.
JAMA Neurology, 2015, Epub
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
Ruggieri A, Brancati F, Zanotti S, et al.
Acta neuropathologica communications, 2015, 3
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Di Blasi C, Sansanelli S, Ruggieri A, et al.
Journal of medical genetics, 2015, 52, 9, p 617
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Musumeci O, la Marca G, Spada M, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 87, 1, p 5
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
A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family
Baranello G, Saredi S, Sansanelli S, et al.
Neuromuscular disorders : NMD, 2015, 25, 1, p 55
Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy
Ruggieri A, Ramachandran N, Wang P, et al.
Neuromuscular disorders : NMD, 2015, 25, 3, p 207
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
Colombo I, Pagliarani S, Testolin S, et al.
Neuromuscular disorders : NMD, 2015, 25, 5, p 423
Cardiac Function in Types II and III Spinal Muscular Atrophy: Should We Change Standards of Care?
Bianco F, Pane M, D'Amico A, et al.
Neuropediatrics, 2015, 46, 1, p 33
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Böhm J, Chevessier F, Koch C, et al.
Journal of medical genetics, 2014, 51, 12, p 824
LMNA-associated myopathies : The Italian experience in a large cohort of patients
Maggi L, D'Amico A, Pini A, et al.
Neurology, 2014, 83, 18, p 1634
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.
Pane M, Mazzone ES, Fanelli L, et al.
Neuromuscular disorders : NMD, 2014, 24, 3, p. 201-206
Genotype-phenotype correlation in Pompe disease, a step forward
De Filippi P, Saeidi K, Ravaglia S, et al.
Orphanet journal of rare diseases, 2014, 9
