A.-L. Bédat-Millet
Centre Hospitalier Universitaire de Rouen(FR)Université de Rouen Normandie(FR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Metabolism and Genetic Disorders, Child Nutrition and Feeding Issues, Muscle Physiology and Disorders
Most-Cited Works
- → Deep phenotyping of an international series of patients with late‐onset dysferlinopathy(2021)30 cited
- → Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients(2016)30 cited
- → Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease(2017)27 cited
- → Prospective study of the additional benefit of plexus magnetic resonance imaging in the diagnosis of chronic inflammatory demyelinating polyneuropathy(2019)21 cited
- [Psychiatric presentation of human African trypanosomiasis: overview of diagnostic pitfalls, interest of difluoromethylornithine treatment and contribution of magnetic resonance imaging].(2000)
- → The wide POLG-related spectrum: An integrated view(2016)14 cited
- → Le syndrome de l’homme raide et autres maladies neurologiques associées aux anticorps anti-GAD(2009)11 cited
- → Focal Myositis Demonstrated on Positron Emission Tomography(2014)8 cited
- → A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy(2016)1 cited
- → Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)(2011)