1. 6q22.1 deletion is associated with epilepsy and abnormal movements. (June 2017) Authors: Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome. (June 2017) Authors: Gras, D.; Cousin, C.; Kappeler, C.; Auvin, S.; Essid, N.; Da Costa, L.; Hainque, E.; Luton, M.P.; Petit, V.; Vuillaumier-Barrot, S.; Boespflug-Tanguy, O.; Roze, E.; Mochel, F. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deciphering the natural history of SCA7 in children. (23rd July 2020) Authors: Bah, M. G.; Rodriguez, D.; Cazeneuve, C.; Mochel, F.; Devos, D.; Suppiej, A.; Roubertie, A.; Meunier, I.; Gitiaux, C.; Curie, A.; Klapczynski, F.; Allani‐Essid, N.; Carneiro, M.; Van Minkelen, R.; Kievit, A.; Fluss, J.; Leheup, B.; Ratbi, L.; Héron, D.; Gras, D. Journal: European journal of neurology Issue: Volume 27:Number 11(2020) Page Start: 2267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases. Issue 3 (20th July 2012) Authors: Lamari, F.; Mochel, F.; Sedel, F.; Saudubray, J. M. Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 3(2013) Page Start: 411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Issue 2 (1st March 2017) Authors: Nambot, S.; Gavrilov, D.; Thevenon, J.; Bruel, A.L.; Bainbridge, M.; Rio, M.; Goizet, C.; Rötig, A.; Jaeken, J.; Niu, N.; Xia, F.; Vital, A.; Houcinat, N.; Mochel, F.; Kuentz, P.; Lehalle, D.; Duffourd, Y.; Rivière, J.B.; Thauvin‐Robinet, C.; Beaudet, A.L. Journal: Clinical genetics Issue: Volume 92:Issue 2(2017) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Multimodal neurometabolic investigation of the effects of zolpidem on leukoencephalopathy‐related apathy. (3rd September 2020) Authors: Delorme, C.; Adanyeguh, I.; Bendetowicz, D.; Le Ber, I.; Ponchel, A.; Kas, A.; Habert, M.‐O.; Mochel, F. Journal: European journal of neurology Issue: Volume 27:Number 11(2020) Page Start: 2297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗