1. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Issue 4 (25th September 2021) Authors: Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brechmann, Barbara; Ziegler, Marvin; Eberhardt, Kathrin; Jumo, Hellen; D'Amore, Angelica; Habibzadeh, Parham; Faghihi, Mohammad Ali; De Bleecker, Jan L; Vuillaumier-Barrot, Sandrine; Auvin, Stéphane; Santorelli, Filippo M; Neuser, Sonja; Popp, Bernt; Yan... Journal: Brain communications Issue: Volume 3:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients. Issue 8 (1st August 2000) Authors: Vuillaumier-Barrot, Sandrine; Hetet, Gilles; Barnier, Anne; Dupré, Thierry; Cuer, Maryvonne; de Lonlay, Pascale; Cormier-Daire, Valérie; Durand, Geneviève; Grandchamp, Bernard; Seta, Nathalie Journal: Journal of medical genetics Issue: Volume 37:Issue 8(2000) Page Start: 579 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗