1. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Issue 12 (27th September 2017) Authors: Schiff, Manuel; Roda, Céline; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anaïs; Brice, Alexis; Bruneel, Arnaud; Buissonnière, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Dai... Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Deep brain stimulation and dystonia: About 10 new pediatric cases and a new DBS center in Paris. (June 2017) Authors: Dorison, Nathalie; Doummar, D.; Vidailhet, M.; Verollet, D.; Marchal, F.; d'Hardemare, V. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e178 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1. Issue 4 (19th May 2018) Authors: Chaix, Yves; Lauwers-Cancès, Valérie; Faure-Marie, Nathalie; Gentil, Catherine; Lelong, Sandrine; Schweitzer, Elisabeth; Rodriguez, Diana; Iannuzzi, Stéphanie; Kemlin, Isabelle; Dorison, Nathalie; Rivier, François; Carniero, Maryline; Preclaire, Elodie; Barbarot, Sébastien; Lion-François, Laurenc... Journal: Child neuropsychology Issue: Volume 24:Issue 4(2018) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Issue 1 (4th October 2019) Authors: Bar, Claire; Barcia, Giulia; Jennesson, Mélanie; Le Guyader, Gwenaël; Schneider, Amy; Mignot, Cyril; Lesca, Gaetan; Breuillard, Delphine; Montomoli, Martino; Keren, Boris; Doummar, Diane; Billette de Villemeur, Thierry; Afenjar, Alexandra; Marey, Isabelle; Gerard, Marion; Isnard, Hervé; Poisson, ... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Focal polymicrogyria in children: Contribution of invasive explorations and epileptogenicity mapping in the surgical decision. (March 2021) Authors: Sculier, Claudine; Taussig, Delphine; David, Olivier; Blustajn, Jerry; Ayoubian, Leila; Bonheur, Julie; Bulteau, Christine; Chipaux, Mathilde; Dorison, Nathalie; Raffo, Emmanuel; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Fohlen, Martine Journal: Seizure Issue: Volume 86(2021) Page Start: 19 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Invasive evaluation in children (SEEG vs subdural grids). (April 2020) Authors: Taussig, Delphine; Chipaux, Mathilde; Fohlen, Martine; Dorison, Nathalie; Bekaert, Olivier; Ferrand-Sorbets, Sarah; Dorfmüller, Georg Journal: Seizure Issue: Volume 77(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Investigation of paediatric occipital epilepsy using stereo‐EEG reveals a better surgical outcome than in adults, especially when the supracalcarine area is affectedst. Issue 5 (21st November 2018) Authors: Craciun, Laura; Taussig, Delphine; Ferrand‐Sorbets, Sarah; Pasqualini, Eduardo; Biraben, Arnaud; Delalande, Olivier; Dorison, Nathalie; Fohlen, Martine; Dorfmuller, Georg; Chipaux, Mathilde Journal: Epileptic disorders Issue: Volume 20:Issue 5(2018) Page Start: 346 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin‐1A. Issue 3 (13th January 2014) Authors: Soldovieri, Maria Virginia; Boutry‐Kryza, Nadia; Milh, Mathieu; Doummar, Diane; Heron, Benedicte; Bourel, Emilie; Ambrosino, Paolo; Miceli, Francesco; De, Michela; Dorison, Nathalie; Auvin, Stephane; Echenne, Bernard; Oertel, Julie; Riquet, Audrey; Lambert, Laetitia; Gerard, Marion; Roubergue, An... Journal: Human mutation Issue: Volume 35:Issue 3(2014:Mar.) Page Start: 356 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Paediatric intracranial dural arteriovenous shunts: types, clinical presentation and therapeutic management. Issue 2 (23rd February 2022) Authors: Smajda, Stanislas J.; Söderman, Michael; Dorfmüller, Georg; Dorison, Nathalie; Nghe, Marie-Claire; Rodesch, Georges L. Journal: Brain communications Issue: Volume 4:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗