M. de Antonio

发表论文 35 篇 · 总被引 859 次 · h-index 14

代表论文

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study (2016 · PLoS ONE · 被引 147)
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management (2019 · Neurology · 被引 58)
Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry (2020 · Journal of Inherited Metabolic Disease · 被引 54)
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis (2018 · Rheumatology · 被引 49)
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study (2018 · Journal of Inherited Metabolic Disease · 被引 35)
Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort (2020 · Molecular Genetics and Metabolism Reports · 被引 29)