1. Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants – identification of 11 novel mutations in CYBB. (12th October 2020) Authors: Mollin, M.; Beaumel, S.; Vigne, B.; Brault, J.; Roux‐Buisson, N.; Rendu, J.; Barlogis, V.; Catho, G.; Dumeril, C.; Fouyssac, F.; Monnier, D.; Gandemer, V.; Revest, M.; Brion, J.‐P.; Bost‐Bru, C.; Jeziorski, E.; Eitenschenck, L.; Jarrasse, C.; Drillon Haus, S.; Houachée‐Chardin, M. Journal: Clinical and experimental immunology Issue: Volume 203:Number 2(2021) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome. (29th December 2017) Authors: Witting, N.; Laforêt, P.; Voermans, N. C.; Roux‐Buisson, N.; Bompaire, F.; Rendu, J.; Duno, M.; Feillet, F.; Kamsteeg, E.‐J.; Poulsen, N. S.; Dahlqvist, J. R.; Romero, N. B.; Fauré, J.; Vissing, J.; Behin, A. Journal: Acta neurologica Scandinavica Issue: Volume 137:Number 5(2018) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗