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Characterization of the immune response in neuromyelitis optica. Caractérisation de la réponse immune dans la neuromyelite optique

Archive ouverte | Chanson, Jean-Baptiste | CCSD

Neuromyelitis optica (NMO) is an inflammatory disease of the central nervous system in which a specific antibody targeting aquaporin 4 (anti-AQP4) was recently found. The aim of this thesis is to develop a translational research i...

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease

Archive ouverte | Closel, Luce Barbat, Du | CCSD

International audience. BackgroundX-Linked Charcot–Marie–Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than m...

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

Archive ouverte | Theuriet, Julian | CCSD

International audience. Abstract Proximal spinal muscular atrophy (SMA) is defined by a degeneration of the anterior horn cells resulting in muscle weakness predominantly in the proximal lower limbs. While most pati...

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