Marion Masingue
Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Institut de Myologie(FR)Pitié-Salpêtrière Hospital(FR)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes(2018)66 cited
- → Mutations in the J domain of DNAJB6 cause dominant distal myopathy(2019)40 cited
- → Deep phenotyping of an international series of patients with late‐onset dysferlinopathy(2021)30 cited
- → A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry(2024)27 cited
- → Characteristics of Patients With Late-Onset Pompe Disease in France(2023)21 cited
- → A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases(2021)16 cited