1. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity. (31st March 2016) Authors: Devaux, Jérôme; Abidi, Affef; Roubertie, Agathe; Molinari, Florence; Becq, Hélène; Lacoste, Caroline; Villard, Laurent; Milh, Mathieu; Aniksztejn, Laurent Journal: Epilepsia Issue: Volume 57:issue 5(2016) Page Start: e87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY. Issue 8 (August 2021) Authors: Meunier, Isabelle; Bocquet, Béatrice; Charif, Majida; Dhaenens, Claire-Marie; Manes, Gael; Amati-Bonneau, Patrizia; Roubertie, Agathe; Zanlonghi, Xavier; Lenaers, Guy Journal: Retina Issue: Volume 41:Issue 8(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Acute‐onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association?. Issue 2 (12th December 2012) Authors: Bohrer, Sandrine; De, Grégoire; Carneiro, Maryline; Fernandez, Carla; Garbi, Didier; Mace, Loïc; Milh, Mathieu; Guillaumont, Sophie; Echenne, Bernard; Honnorat, Jérôme; Roubertie, Agathe Journal: Movement disorders Issue: Volume 28:Issue 2(2013) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (9th January 2020) Authors: Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, A... Journal: Human molecular genetics Issue: Volume 29:Number 2(2020) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. Issue 5 (7th June 2021) Authors: Toquet, Ségolène; Spodenkiewicz, Marta; Douillard, Claire; Maillot, François; Arnoux, Jean‐Baptiste; Damaj, Lena; Odent, Sylvie; Moreau, Caroline; Redonnet‐Vernhet, Isabelle; Mesli, Samir; Servais, Aude; Noel, Esther; Charriere, Sybill; Rigalleau, Vincent; Lavigne, Christian; Kaphan, Elsa; Rouber... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study. (22nd April 2016) Authors: Lagarde, Stanislas; Villeneuve, Nathalie; Trébuchon, Agnès; Kaphan, Elsa; Lepine, Anne; McGonigal, Aileen; Roubertie, Agathe; Barthez, Marie‐Anne J.; Trommsdorff, Valérie; Lefranc, Jérémie; Wehbi, Samer; des Portes, Vincent; Laguitton, Virginie; Quartier, Pierre; Scavarda, Didier; Giusiano, Berna... Journal: Epilepsia Issue: Volume 57:issue 6(2016) Page Start: 956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?. (February 2018) Authors: Roubertie, Agathe; Hieu, Nelson; Roux, Charles-Joris; Leboucq, Nicolas; Manes, Gael; Charif, Majida; Echenne, Bernard; Goizet, Cyril; Guissart, Claire; Meyer, Pierre; Marelli, Cecilia; Rivier, François; Burglen, Lydie; Horvath, Rita; Hamel, Christian P.; Lenaers, Guy Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders. (21st June 2018) Authors: Humbertclaude, Véronique; Krams, Benjamin; Nogue, Erika; Nagot, Nicolas; Annequin, Daniel; Tourniaire, Barbara; Tournier‐Lasserve, Elisabeth; Riant, Florence; Roubertie, Agathe Other Names: Echenne Bernard investigator.; Nguyen Marie‐Ange investigator.; Doummar Diane investigator.; Milh Mathieu investigator.; Napuri Silvia investigator.; Lion‐François Laurence investigator.; Tardieu Marc investigator.; Cheuret Emmanuel investigator.; Spitz Marie‐Aude investigator.; de Saint Martin A... Journal: Developmental medicine & child neurology Issue: Volume 60:Number 12(2018) Page Start: 1256 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia. (8th March 2022) Authors: Ekmen, Asya; Meneret, Aurelie; Valabregue, Romain; Beranger, Benoit; Worbe, Yulia; Lamy, Jean-Charles; Mehdi, Sofien; Herve, Anais; Adanyeguh, Isaac; Temiz, Gizem; Damier, Philippe; Gras, Domitille; Roubertie, Agathe; Piard, Juliette; Navarro, Vincent; Mutez, Eugenie; Riant, Florence; Welniarz, Q... Journal: Neurology Issue: Volume 98:Number 10(2022) Page Start: e1077 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cerebellum Dysfunction in Patients With PRRT2-Related Paroxysmal Dyskinesia. (8th March 2022) Authors: Ekmen, Asya; Meneret, Aurelie; Valabregue, Romain; Beranger, Benoit; Worbe, Yulia; Lamy, Jean-Charles; Mehdi, Sofien; Herve, Anais; Adanyeguh, Isaac; Temiz, Gizem; Damier, Philippe; Gras, Domitille; Roubertie, Agathe; Piard, Juliette; Navarro, Vincent; Mutez, Eugenie; Riant, Florence; Welniarz, Q... Journal: Neurology Issue: Volume 98:Number 10(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗