1. A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease. Issue 2 (8th July 2021) Authors: Puma, Angela; Ezaru, Andra; Cavalli, Michele; Villa, Luisa; Torre, Federico; Biancalana, Valérie; Levade, Thierry; Grecu, Nicolae; Sacconi, Sabrina Journal: Clinical genetics Issue: Volume 100:Issue 2(2021) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A diagnosis of progressive myoclonic ataxia guided by blood biomarkers. (January 2022) Authors: Dubot, Patricia; Rafiq, Marie; Curot, Jonathan; Simonetta-Moreau, Marion; Sabourdy, Frédérique; Pettazzoni, Magali; Froissart, Roseline; Levade, Thierry; Ory-Magne, Fabienne Journal: Parkinsonism & related disorders Issue: Volume 94(2022) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Novel Jaspine BCeramide Hybrid Modulates Sphingolipid Metabolism. Issue 7 (July 2015) Authors: Garcia, Virginie; Le Faouder, Pauline; Dupuy, Aude; Levade, Thierry; Ballereau, Stéphanie; Génisson, Yves Journal: Chemistry & biodiversity Issue: Volume 12:Issue 7(2015:Jul.) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Allogeneic hematopoietic cell transplantation in Farber disease. Issue 2 (27th February 2019) Authors: Ehlert, Karoline; Levade, Thierry; Di Rocco, Maja; Lanino, Edoardo; Albert, Michael H.; Führer, Monika; Jarisch, Andrea; Güngör, Tayfun; Ayuk, Francis; Vormoor, Josef Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Anti-TNF, a magic bullet in cancer immunotherapy?. Issue 1 (14th November 2019) Authors: Montfort, Anne; Dufau, Carine; Colacios, Céline; Andrieu-Abadie, Nathalie; Levade, Thierry; Filleron, Thomas; Delord, Jean-Pierre; Ayyoub, Maha; Meyer, Nicolas; Ségui, Bruno Journal: Journal for immunotherapy of cancer Issue: Volume 7:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. Issue 9 (29th July 2016) Authors: Bonafé, Luisa; Kariminejad, Ariana; Li, Jia; Royer‐Bertrand, Beryl; Garcia, Virginie; Mahdavi, Shokouholsadat; Bozorgmehr, Bita; Lachman, Ralph L.; Mittaz‐Crettol, Lauréane; Campos‐Xavier, Belinda; Nampoothiri, Sheela; Unger, Sheila; Rivolta, Carlo; Levade, Thierry; Superti‐Furga, Andrea Journal: Arthritis & rheumatology Issue: Volume 68:Issue 9(2016) Page Start: 2323 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease. Issue 4 (28th December 2021) Authors: Germain, Dominique P.; Levade, Thierry; Hachulla, Eric; Knebelmann, Bertrand; Lacombe, Didier; Seguin, Vanessa Leguy; Nguyen, Karine; Noël, Esther; Rabès, Jean‐Pierre Journal: Clinical genetics Issue: Volume 101:Issue 4(2022) Page Start: 390 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Concise asymmetric synthesis of new enantiomeric C-alkyl pyrrolidines acting as pharmacological chaperones against Gaucher disease. Issue 39 (25th September 2020) Authors: Castellan, Tessa; Garcia, Virginie; Rodriguez, Frédéric; Fabing, Isabelle; Shchukin, Yevhenii; Tran, My Lan; Ballereau, Stéphanie; Levade, Thierry; Génisson, Yves; Dehoux, Cécile Journal: Organic & biomolecular chemistry Issue: Volume 18:Issue 39(2020) Page Start: 7852 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Confocal LASER endomicroscopy in Niemann–Pick disease type B. Issue 2 (4th February 2021) Authors: Villeneuve, Thomas; Guibert, Nicolas; Collot, Samia; Fajadet, Pierre; Colombat, Magali; Courtade-Saïdi, Monique; Levade, Thierry; Didier, Alain; Prévot, Grégoire Journal: European respiratory journal Issue: Volume 57:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency. Issue 4 (18th March 2021) Authors: Tebani, Abdellah; Sudrié-Arnaud, Bénédicte; Dabaj, Ivana; Torre, Stéphanie; Domitille, Laur; Snanoudj, Sarah; Heron, Benedicte; Levade, Thierry; Caillaud, Catherine; Vergnaud, Sabrina; Saugier-Veber, Pascale; Coutant, Sophie; Dranguet, Hélène; Froissart, Roseline; Al Khouri, Majed; Alembik, Yves;... Journal: Journal of medical genetics Issue: Volume 59:Issue 4(2022) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗