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. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. Issue 7 (16th January 2015) Authors: Delcourt, Marion; Riant, Florence; Mancini, Josette; Milh, Mathieu; Navarro, Vincent; Roze, Emmanuel; Humbertclaude, Véronique; Korff, Christian; Des Portes, Vincent; Szepetowski, Pierre; Doummar, Diane; Echenne, Bernard; Quintin, Samuel; Leboucq, Nicolas; Singh Amrathlal, Rabbind; Rochette, Jacq... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 7(2015) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. No evidence of allelic heterogeneity in theDYT1 gene of European patients with early onset torsion dystonia. Issue 10 (1st October 2001) Authors: Tuffery-Giraud, Sylvie; Cavalier, Laurent; Roubertie, Agathe; Guittard, Caroline; Carles, Soukeyna; Calvas, Patrick; Echenne, Bernard; Coubes, Philippe; Claustres, Mireille Journal: Journal of medical genetics Issue: Volume 38:Issue 10(2001) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (12th January 2016) Authors: Habbout, Karima; Poulin, Hugo; Rivier, François; Giuliano, Serena; Sternberg, Damien; Fontaine, Bertrand; Eymard, Bruno; Morales, Raul Juntas; Echenne, Bernard; King, Louise; Hanna, Michael G.; Männikkö, Roope; Chahine, Mohamed; Nicole, Sophie; Bendahhou, Said Journal: Neurology Issue: Volume 86:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features. Issue 6 (4th April 2018) Authors: Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Remerand, Ganaëlle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, O... Journal: Journal of medical genetics Issue: Volume 55:Issue 6(2018) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cognitive impairment in children with CACNA1A mutations. (21st May 2019) Authors: Humbertclaude, Veronique; Riant, Florence; Krams, Benjamin; Zimmermann, Valerie; Nagot, Nicolas; Annequin, Daniel; Echenne, Bernard; Tournier‐Lasserve, Elisabeth; Roubertie, Agathe Other Names: Bonnemains Chrystelle investigator.; Chabrier Stéphane investigator.; Cheuret Emmanuel investigator.; Doummar Diane investigator.; Dubois Fanny investigator.; Kossorotoff Manoelle investigator.; Leboucq Nicolas investigator.; Leydet Julie investigator.; Lion‐François Laurence investigator.; Meyer... Journal: Developmental medicine & child neurology Issue: Volume 62:Number 3(2020) Page Start: 330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients. Issue 1 (30th September 2015) Authors: El Chehadeh, Salima; Faivre, Laurence; Mosca‐Boidron, Anne‐Laure; Malan, Valérie; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Callier, Patrick; Lefebvre, Mathilde; Marle, Nathalie; Dubourg, Christèle; Julia, Sophie; Sarret, Catherine; Francannet, Christi... Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?. (February 2018) Authors: Roubertie, Agathe; Hieu, Nelson; Roux, Charles-Joris; Leboucq, Nicolas; Manes, Gael; Charif, Majida; Echenne, Bernard; Goizet, Cyril; Guissart, Claire; Meyer, Pierre; Marelli, Cecilia; Rivier, François; Burglen, Lydie; Horvath, Rita; Hamel, Christian P.; Lenaers, Guy Journal: Neurology Issue: Volume 4:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Acute‐onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association?. Issue 2 (12th December 2012) Authors: Bohrer, Sandrine; De, Grégoire; Carneiro, Maryline; Fernandez, Carla; Garbi, Didier; Mace, Loïc; Milh, Mathieu; Guillaumont, Sophie; Echenne, Bernard; Honnorat, Jérôme; Roubertie, Agathe Journal: Movement disorders Issue: Volume 28:Issue 2(2013) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗