Centre hospitalier universitaire (CHU) d'Angers


Angers, France

Publications in cooperation with FAU scientists

Konrad, E., Nardini, N., Caliebe, A., Nagel, I., Young, D., Horvath, G.,... Zweier, C. (2019). CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genetics in Medicine. https://dx.doi.org/10.1038/s41436-019-0585-z
Beziat, V., Li, J., Lin, J.-X., Ma, C.S., Li, P., Bousfiha, A.,... Casanova, J.-L. (2018). A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science immunology, 3(24). https://dx.doi.org/10.1126/sciimmunol.aat4956
Bauche, S., Vellieux, G., Sternberg, D., Fontenille, M.-J., De Bruyckere, E., Davoine, C.-S.,... Nicole, S. (2017). Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. Journal of Neurology, 264(8), 1791-1803. https://dx.doi.org/10.1007/s00415-017-8569-x
El Massioui, N., Lamirault, C., Yague, S., Adjeroud, N., Garces, D., Maillard, A.,... Doyere, V. (2016). Impaired Decision Making and Loss of Inhibitory-Control in a Rat Model of Huntington Disease. Frontiers in Behavioral Neuroscience, 10. https://dx.doi.org/10.3389/fnbeh.2016.00204
Potorac, I., Petrossians, P., Daly, A.F., Alexopoulou, O., Borot, S., Sahnoun-Fathallah, M.,... Beckers, A. (2016). T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly. Endocrine-Related Cancer, 23(11), 871-881. https://dx.doi.org/10.1530/ERC-16-0356
Boehm, J., Chevessier, F., Koch, C., Peche, G.A., Mora, M., Morandi, L.,... Laporte, J. (2014). Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Journal of Medical Genetics, 51(12), 824-33. https://dx.doi.org/10.1136/jmedgenet-2014-102623

Last updated on 2017-13-04 at 11:49