1. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. (19th February 2019) Authors: Lagrue, Emmanuelle; Dogan, Céline; De Antonio, Marie; Audic, Frédérique; Bach, Nathalie; Barnerias, Christine; Bellance, Rémi; Cances, Claude; Chabrol, Brigitte; Cuisset, Jean-Marie; Desguerre, Isabelle; Durigneux, Julien; Espil, Caroline; Fradin, Mélanie; Héron, Delphine; Isapof, Arnaud; Jacquin... Journal: Neurology Issue: Volume 92:Number 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies. (November 2017) Authors: Chareyre, Judith; Hully, Marie; Simonnet, Hina; Musset, Lucile; Barnerias, Christine; Kossorotoff, Manoelle; Quijano-Roy, Susana; Desguerre, Isabelle; Gitiaux, Cyril Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 891 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Asymmetric muscle weakness due to ACTA1 mosaic mutations. (15th December 2020) Authors: Lornage, Xavière; Quijano-Roy, Susana; Amthor, Helge; Carlier, Robert-Yves; Monnier, Nicole; Deleuze, Jean-François; Romero, Norma B.; Laporte, Jocelyn; Böhm, Johann Journal: Neurology Issue: Volume 95:Number 24(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. (12th December 2016) Authors: Heller, Felice; Dabaj, Ivana; Mah, Jean K.; Bergounioux, Jean; Essid, Aben; Bönnemann, Carsten G.; Rutkowski, Anne; Bonne, Gisèle; Quijano-Roy, Susana; Wahbi, Karim Journal: Cardiology in the young Issue: Volume 27:Number 6(2017) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diaphragmatic Weakness With Progressive Sensory and Motor Polyneuropathy: Case Report of a Neonatal IGHMBP2-Related Neuropathy. (June 2013) Authors: Gitiaux, Cyril; Bergounioux, Jean; Magen, Maryse; Quijano-Roy, Susana; Blanc, Thierry; Bonnefont, Jean Paul; Desguerre, Isabelle Journal: Journal of child neurology Issue: Volume 28:Number 6(2013) Page Start: 787 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. (September 2020) Authors: Kirschner, Janbernd; Butoianu, Nina; Goemans, Nathalie; Haberlova, Jana; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; van der Pol, W. Ludo; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; Ziegler, Andreas; Servais, Laurent; Muntoni, Francesco Journal: European journal of paediatric neurology Issue: Volume 28(2020) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients. Issue 9 (19th October 2021) Authors: Gaume, Mathilde; Saudeau, Etienne; Gomez-Garcia de la Banda, Marta; Azzi-Salameh, Viviane; Mbieleu, Blaise; Verollet, Delphine; Benezit, Audrey; Bergounioux, Jean; Essid, Aben; Doehring, Isabelle; Dabaj, Ivana; Desguerre, Isabelle; Barnerias, Christine; Topouchian, Vicken; Glorion, Christophe; Qu... Journal: Journal of pediatric orthopaedics Issue: Volume 41:Issue 9(2021) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients. Issue 9 (October 2021) Authors: Gaume, Mathilde; Saudeau, Etienne; Gomez-Garcia de la Banda, Marta; Azzi-Salameh, Viviane; Mbieleu, Blaise; Verollet, Delphine; Benezit, Audrey; Bergounioux, Jean; Essid, Aben; Doehring, Isabelle; Dabaj, Ivana; Desguerre, Isabelle; Barnerias, Christine; Topouchian, Vicken; Glorion, Christophe; Qu... Journal: Journal of pediatric orthopaedics Issue: Volume 41:Issue 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Motor neuropathy contributes to crouching in patients with Dravet syndrome. (19th July 2016) Authors: Gitiaux, Cyril; Chemaly, Nicole; Quijano-Roy, Susana; Barnerias, Christine; Desguerre, Isabelle; Hully, Marie; Chiron, Catherine; Dulac, Olivier; Nabbout, Rima Journal: Neurology Issue: Volume 87:Number 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗