1. "Olsenella urininfantis", a new bacterial species isolated from a urine sample of a 26-day-old boy suffering from gastroesophageal reflux. (December 2016) Authors: Morand, Aurélie; Chabrol, Brigitte; Fournier, Pierre-Edouard Journal: Human microbiome journal Issue: Volume 2(2016) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. Issue 5 (10th June 2016) Authors: Morava, Eva; Tiemes, Vera; Thiel, Christian; Seta, Nathalie; de Lonlay, Pascale; de Klerk, Hans; Mulder, Margot; Rubio‐Gozalbo, Estela; Visser, Gepke; van Hasselt, Peter; Horovitz, Dafne D. G.; de Souza, Carolina Fischinger Moura; Schwartz, Ida V. D.; Green, Andrew; Al‐Owain, Mohammed; Uziel, Gra... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 713 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. Bromazepam intoxication in an infant: Contribution of hair and nail analysis. Issue 3 (10th February 2020) Authors: Pelissier‐Alicot, Anne‐Laure; Kintz, Pascal; Ameline, Alice; Bosdure, Emmanuelle; Chabrol, Brigitte; Neant, Nadège; Torrents, Romain; Sastre, Caroline; Baillif‐Couniou, Valérie; Tuchtan‐Torrents, Lucile; Leonetti, Georges Journal: Drug testing and analysis Issue: Volume 12:Issue 3(2020) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. (January 2021) Authors: Estublier, Bastien; Cano, Aline; Hoebeke, Célia; Pichard, Samia; Scavarda, Didier; Desguerre, Isabelle; Auvin, Stéphane; Chabrol, Brigitte Journal: European journal of paediatric neurology Issue: Volume 30(2021) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CHCHD10 mutations are not a common cause of SMN1‐negative type III/IV spinal motor atrophy. Issue 5 (31st August 2015) Authors: Morel, Godelieve; Rouzier, Cécile; Chaussenot, Annabelle; Ait‐El‐Mkadem, Samira; Bannwarth, Sylvie; Genin, Emmanuelle C.; Augé, Gaëlle; Chabrol, Brigitte; Pouget, Jean; Soriani, Marie Hélène; Sacconi, Sabrina; Paquis‐Flucklinger, Véronique Journal: Annals of neurology Issue: Volume 78:Issue 5(2015:Nov.) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Clinical characteristics of paediatric COVID‐19 patients followed for up to 13 months. (22nd August 2021) Authors: Matteudi, Tatiana; Luciani, Léa; Fabre, Alexandre; Minodier, Philippe; Boucekine, Mohammed; Bosdure, Emmanuelle; Dubus, Jean‐Christophe; Colson, Philippe; Chabrol, Brigitte; Morand, Aurélie Journal: Acta pædiatrica Issue: Volume 110:Number 12(2021) Page Start: 3331 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗