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9 results on '"Sacconi, S."'

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1. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019

2. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

3. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

4. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

5. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

6. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

7. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

8. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

9. Next generation sequencing on patients with LGMD and nonspecific myopathies: findings associated with ANO5 mutations

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