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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Scalco RS, Lucia A, Santalla A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 330
Diagnostic tools in late onset Pompe disease (LOPD)
Musumeci O, Toscano A
Annals of translational medicine, 2019, 7, 13, p 286
Multisystem late onset Pompe disease (LOPD): an update on clinical aspects
Toscano A, Rodolico C, Musumeci O
Annals of translational medicine, 2019, 7, 13, p 284
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
A genetic modifier of symptom onset in Pompe disease
Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, et al.
EBiomedicine, 2019, 43, p 553
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
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle
Vita G, Vita GL, Musumeci O, et al.
Neurological sciences, 2019, 40, 4, p 671
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
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis
Musumeci O, Musumeci O, Marino S, et al.
European journal of neurology, 2018
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
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese M, Torella A, Musumeci O, et al.
Neuromuscular disorders : NMD, 2018
Update on diagnostics of metabolic myopathies
Toscano A, Barca E, Musumeci O
Current opinion in neurology, 2017, 30, 5, p 553
Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi M, Tasca G, Diaz-Manera J, et al.
Journal of neurology, 2017, 264, 7, p 1334
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci D, Angelini C, Bertini E, et al.
Journal of neurology, 2017, 264, 8, p 1777
Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls
Rodolico C, Parisi D, Portaro S, et al.
Journal of Neuromuscular Diseases, 2016, 3, 3, p 413
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
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, 87, 1, p 71
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, Musumeci O, Giugliano T, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p. 292-299
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
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Montagnese F, Barca E, Musumeci O, et al.
Journal of neurology, 2015, 262, 4, p 968
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
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
Savarese M, Di Fruscio G, Tasca G, et al.
Neuromuscular disorders : NMD, 2015, 25, 7, p 533
Recurrent rhabdomyolysis due to muscle beta-enolase deficiency: very rare or underestimated?
Musumeci O, Brady S, Rodolico C, et al.
Journal of neurology, 2014, 261, 12, p 2424
Vaccination recommendations for patients with neuromuscular disease
Esposito S, Bruno C, Berardinelli A, et al.
Vaccine, 2014, 32, 45, p 5893
Early is better ? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)
Toscano A, Montagnese F, Musumeci O
Acta myologica, 2013, 32, 2, p. 78-81
