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. ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate. (29th May 2016) Authors: Rheims, Sylvain; Herbillon, Vania; Villeneuve, Nathalie; Auvin, Stéphane; Napuri, Silvia; Cances, Claude; Berquin, Patrick; Castelneau, Pierre; Nguyen The Tich, Sylvie; Villega, Frédéric; Isnard, Hervé; Nabbout, Rima; Gaillard, Ségolène; Mercier, Catherine; Kassai, Behrouz; Arzimanoglou, Alexis Other Names: Pedespan Jean‐Michel investigator.; de Bellescize Julitta investigator.; Keo‐Kosal Pascale investigator.; Panagiotakaki Eleni investigator.; Montavont Alexandra investigator.; Ostrowski‐Coste Karine investigator.; Milh Mathieu investigator.; Chiron Catherine investigator.; Chemaly Nicole investig... Journal: Epilepsia Issue: Volume 57:issue 7(2016) Page Start: 1069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients. (July 2021) Authors: Le Roux, Marie; Barth, Magalie; Gueden, Sophie; Desbordes de Cepoy, Patrick; Aeby, Alec; Vilain, Catheline; Hirsch, Edouard; de Saint Martin, Anne; Portes, Vincent des; Lesca, Gaëtan; Riquet, Audrey; Chaton, Laurence; Villeneuve, Nathalie; Villard, Laurent; Cances, Claude; Valton, Luc; Renaldo, F... Journal: European journal of paediatric neurology Issue: Volume 33(2021) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. Issue 9 (29th September 2020) Authors: Géraud, Justine; Dieterich, Klaus; Rendu, John; Uro Coste, Emmanuelle; Dobrzynski, Murielle; Marcorelle, Pascale; Ioos, Christine; Romero, Norma Beatriz; Baudou, Eloise; Brocard, Julie; Coville, Anne-Cécile; Fauré, Julien; Koenig, Michel; Juntas Morales, Raul; Lacène, Emmanuelle; Madelaine, Angél... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019) Authors: Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Effect of desipramine on patients with breathing disorders in RETT syndrome. Issue 2 (27th December 2017) Authors: Mancini, Josette; Dubus, Jean‐Christophe; Jouve, Elisabeth; Roux, Jean‐Christophe; Franco, Patricia; Lagrue, Emmanuelle; Castelnau, Pierre; Cances, Claude; Chaix, Yves; Rougeot‐Jung, Christelle; Cornu, Catherine; Desportes, Vincent; Vallée, Louis; Bahi‐Buisson, Nadia; Truillet, Romain; Attolini, ... Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 2(2018) Page Start: 118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France. (1st April 2016) Authors: Chipaux, Mathilde; Szurhaj, William; Vercueil, Laurent; Milh, Mathieu; Villeneuve, Nathalie; Cances, Claude; Auvin, Stéphane; Chassagnon, Serge; Napuri, Sylvia; Allaire, Catherine; Derambure, Philippe; Marchal, Cécile; Caubel, Isabelle; Ricard‐Mousnier, Brigitte; N'Guyen the Tich, Sylvie; Pinard,... Journal: Epilepsia Issue: Volume 57:issue 5(2016) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015) Authors: Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan... Journal: Epilepsia Issue: Volume 56:issue 12(2015:Dec.) Page Start: 1931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress. (March 2021) Authors: François-Heude, Marie-Céline; Walther-Louvier, Ulrike; Espil-Taris, Caroline; Beze-Beyrie, Pierre; Rivier, François; Baudou, Eloise; Uro-Coste, Emmanuelle; Rigau, Valérie; Martin Negrier, Marie Laure; Rendu, John; Morales, Raul Juntas; Pégeot, Henri; Thèze, Corinne; Lacourt, Delphine; Coville, An... Journal: European journal of paediatric neurology Issue: Volume 31(2021) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy. (January 2022) Authors: Hafner, Patricia; Schmidt, Simone; Schädelin, Sabine; Rippert, Pascal; Hamroun, Dalil; Fabien, Solenn; Henzi, Bettina; Putananickal, Niveditha; Rubino-Nacht, Daniela; Vuillerot, Carole; Fischer, Dirk; Fontaine-Carbonnel, Stéphanie; De Montferrand, Camille; Ragot-Mandry, Sylvie; Chabrier, Stéphane... Journal: European journal of paediatric neurology Issue: Volume 36(2022) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗