1. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Issue 2 (28th September 2020) Authors: Bérat, Claire‐Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj,... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells. Issue 1 (December 2015) Authors: Massouridès, Emmanuelle; Polentes, Jérôme; Mangeot, Philippe-Emmanuel; Mournetas, Virginie; Nectoux, Juliette; Deburgrave, Nathalie; Nusbaum, Patrick; Leturcq, France; Popplewell, Linda; Dickson, George; Wein, Nicolas; Flanigan, Kevin; Peschanski, Marc; Chelly, Jamel; Pinset, Christian Journal: Skeletal muscle Issue: Volume 5:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (19th February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation. (February 2022) Authors: Montealegre, Sebastian; Lebigot, Elise; Debruge, Hugo; Romero, Norma; Héron, Bénédicte; Gaignard, Pauline; Legendre, Antoine; Imbard, Apolline; Gobin, Stéphanie; Lacène, Emmanuelle; Nusbaum, Patrick; Hubas, Arnaud; Desguerre, Isabelle; Servais, Aude; Laforêt, Pascal; van Endert, Peter; Authier, F... Journal: Neurology Issue: Volume 8:Number 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology. (23rd January 2020) Authors: Gitiaux, Cyril; Bondet, Vincent; Bekaddour, Nassima; Nusbaum, Patrick; Hubas, Arnaud; Melki, Isabelle; Bodemer, Christine; Quartier, Pierre; Desguerre, Isabelle; Crow, Yanick J; Herbeuval, Jean-Philippe; Duffy, Darragh; Bader Meunier, Brigitte ; Rodero, Mathieu P Journal: Rheumatology Issue: Volume 59:Number 5(2020) Page Start: 1191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology. (30th October 2019) Authors: Gitiaux, Cyril; Bondet, Vincent; Bekaddour, Nassima; Nusbaum, Patrick; Hubas, Arnaud; Melki, Isabelle; Bodemer, Christine; Quartier, Pierre; Desguerre, Isabelle; Crow, Yanick J; Herbeuval, Jean-Philippe; Duffy, Darragh; Bader Meunier, Brigitte; Rodero, Mathieu P Journal: Rheumatology Issue: Volume 59:Number 5(2020) Page Start: 1171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Myogenic Progenitor Cells Exhibit Type I Interferon–Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis. Issue 1 (28th November 2017) Authors: Gitiaux, Cyril; Latroche, Claire; Weiss‐Gayet, Michèle; Rodero, Mathieu P.; Duffy, Darragh; Bader‐Meunier, Brigitte; Glorion, Christophe; Nusbaum, Patrick; Bodemer, Christine; Mouchiroud, Guy; Chelly, Jamel; Germain, Stéphane; Desguerre, Isabelle; Chazaud, Bénédicte Journal: Arthritis & rheumatology Issue: Volume 70:Issue 1(2018) Page Start: 134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗