Laugel, Vincent

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Lagrue, E., Dogan, C., De Antonio, M., Audic, F., Bach, N., Barnerias, C., Bellance, R., Cances, C., Chabrol, B., Cuisset, J.-M., et al. (2019) · Neurology

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

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Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kröll‐Hermi, A., Ebstein, F., Stoetzel, C., Geoffroy, V., Schaefer, E., Scheidecker, S., Bär, S., Takamiya, M., Kawakami, K., Zieba, B. A., et al. (2020) · EMBO Molecular Medicine

Ubiquitin and proteasome pathwaysGenetic Neurodegenerative Diseases

Cited by 65