Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies

To further confirm that the identified mutation was responsible for the SCA21 subtype, we sequenced the four coding exons of TMEM240 gene in probands of 368

Altogether, we describe a monogenic disease linked to CACNA1G mutations; confirm the implication of Cav3.1 channels, highly expressed in Purkinje cells and deep

significant proportions of patients harboring anti-DFS70 antibodies unexpectedly presented with a history of thrombosis (arterial or venous) or obstetric complications including

- Cœurs éblouis par tant de grâce, laissez couler vos larmes, petites gouttes salées deviendront par la magie, abracadabra, des petits sucres d’orge au goût

Or, à la fin du roman, lorsque le lecteur s’intrigue de l'identité sexuelle de l'énonciateur, celui-ci lui fait remonter au titre qui, ayant la particularité de coupler un

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.. Natacha Lehman, Anne-Claire Mazery, Antoine Visier, Clarisse

Caspr2 strongly co-localized with GAD65-positive axons as observed using serum IgGs of all the patients analyzed (Supplementary Figure S2).. In particular, the GAD65-positive axons

Connective tissue diseases (CTDs) such as systemic lupus erythematosus, systemic sclerosis, myositis, Sjögren’s syndrome, and rheumatoid arthritis are systemic diseases which