1. A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Issue 10 (24th July 2015) Authors: Doummar, Diane; Mignot, Cyril; Apartis, Emmanuelle; Villard, Laurent; Rodriguez, Diana; Chantot‐Bastauraud, Sandra; Burglen, Lydie Journal: Movement disorders Issue: Volume 30:Issue 10(2015) Page Start: 1431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations. (8th December 2015) Authors: Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R.; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S.; Stessman, Holly A.; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y.; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki... Journal: Neurology Issue: Volume 85:Number 23(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. Issue 10 (24th July 2012) Authors: Gras, Domitille; Jonard, Laurence; Roze, Emmanuel; Chantot-Bastaraud, Sandra; Koht, Jeanette; Motte, Jacques; Rodriguez, Diana; Louha, Malek; Caubel, Isabelle; Kemlin, Isabelle; Lion-François, Laurence; Goizet, Cyril; Guillot, Loic; Moutard, Marie-Laure; Epaud, Ralph; Héron, Bénédicte; Charles, P... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 83:Issue 10(2012) Page Start: 956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8. Issue 10 (20th August 2021) Authors: Doummar, Diane; Treven, Marco; Qebibo, Leila; Devos, David; Ghoumid, Jamal; Ravelli, Claudia; Kranz, Gottfried; Krenn, Martin; Demailly, Diane; Cif, Laura; Davion, Jean‐Baptiste; Zimprich, Fritz; Burglen, Lydie; Zech, Michael Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 10(2021) Page Start: 1986 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders. Issue 5 (31st August 2021) Authors: Nøstvik, Miriam; Kateta, Sarah M.; Schönewolf‐Greulich, Bitten; Afenjar, Alexandra; Barth, Magalie; Boschann, Felix; Doummar, Diane; Haack, Tobias B.; Keren, Boris; Livshits, Ludmila A.; Mei, Davide; Park, Joohyun; Pisano, Tiziana; Prouteau, Clement; Umair, Muhammad; Waqas, Ahmed; Ziegler, Alban;... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Issue 5 (20th January 2021) Authors: Garde, Aurore; Guibaud, Laurent; Goldenberg, Alice; Petit, Florence; Dard, Rodolphe; Roume, Joelle; Mazereeuw‐Hautier, Juliette; Chassaing, Nicolas; Lacombe, Didier; Morice‐Picard, Fanny; Toutain, Annick; Arpin, Stéphanie; Boccara, Olivia; Touraine, Renaud; Blanchet, Patricia; Coubes, Christine; ... Journal: Clinical genetics Issue: Volume 99:Issue 5(2021) Page Start: 650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients. Issue 1 (December 2015) Authors: Panagiotakaki, Eleni; De Grandis, Elisa; Stagnaro, Michela; Heinzen, Erin; Fons, Carmen; Sisodiya, Sanjay; de Vries, Boukje; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaëtan; Rabilloud, Muriel; Klich, Amna; Ramirez-Camacho, Alia; Ulate-Campos, Adriana; Campis... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Congenital immobility and stiffness related to biallelic ATAD1 variants. (December 2020) Authors: Bunod, Roxane; Doummar, Diane; Whalen, Sandra; Keren, Boris; Chantot-Bastaraud, Sandra; Maincent, Kim; Villy, Marie-Charlotte; Mayer, Michèle; Rodriguez, Diana; Burglen, Lydie; Léger, Pierre-Louis; Kieffer, François; Martin, Isabelle; Héron, Delphine; Buratti, Julien; Isapof, Arnaud; Afenjar, Ale... Journal: Neurology Issue: Volume 6:Number 6(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Defining the phenotypic spectrum of SLC6A1 mutations. (8th January 2018) Authors: Johannesen, Katrine M.; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna‐Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi‐Warde, Marie‐Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J. Lawrence; Rodan, Lance H.; Tan, Wen‐Hann; Bird, Lynne ... Journal: Epilepsia Issue: Volume 59:issue 2(2018) Page Start: 389 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗