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. Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen. Issue 1 (5th November 2020) Authors: Gómez‐García de la Banda, Marta; Amaddeo, Alessandro; Khirani, Sonia; Pruvost, Sandrine; Barnerias, Christine; Dabaj, Ivana; Bénézit, Audrey; Durigneux, Julien; Carlier, Robert Y.; Desguerre, Isabelle; Quijano‐Roy, Susana; Fauroux, Brigitte Journal: Pediatric pulmonology Issue: Volume 56:Issue 1(2021) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data. (22nd March 2021) Authors: Porcher, Raphaël; Desguerre, Isabelle; Amthor, Helge; Chabrol, Brigitte; Audic, Frédérique; Rivier, François; Isapof, Arnaud; Tiffreau, Vincent; Campana-Salort, Emmanuelle; Leturcq, France; Tuffery-Giraud, Sylvie; Ben Yaou, Rabah; Annane, Djillali; Amédro, Pascal; Barnerias, Christine; Bécane, He... Journal: European heart journal Issue: Volume 42:Number 20(2021) Page Start: 1976 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical features and evolution of juvenile myasthenia gravis in a French cohort. Issue 4 (11th October 2017) Authors: Barraud, Coline; Desguerre, Isabelle; Barnerias, Christine; Gitiaux, Cyril; Boulay, Christophe; Chabrol, Brigitte Journal: Muscle & nerve Issue: Volume 57:Issue 4(2018) Page Start: 603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Epileptic spasms in congenital disorders of glycosylation. Issue 1 (March 2017) Authors: Pereira, Andreia G.; Bahi‐Buisson, Nadia; Barnerias, Christine; Boddaert, Nathalie; Nabbout, Rima; de Lonlay, Pascale; Kaminska, Anna; Eisermann, Monika Journal: Epileptic disorders Issue: Volume 19:Issue 1(2017) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020) Authors: Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications. Issue 2 (21st December 2020) Authors: Castiglioni, Claudia; Feillet, François; Barnerias, Christine; Wiedemann, Arnaud; Muchart, Jordi; Cortes, Fanny; Hernando‐Davalillo, Cristina; Montero, Raquel; Dupré, Thierry; Bruneel, Arnaud; Seta, Nathalie; Vuillaumier‐Barrot, Sandrine; Serrano, Mercedes Journal: Human mutation Issue: Volume 42:Issue 2(2021) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗