1. New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix–Saguenay. Issue 6 (14th November 2015) Authors: Pilliod, Julie; Moutton, Sébastien; Lavie, Julie; Maurat, Elise; Hubert, Christophe; Bellance, Nadège; Anheim, Mathieu; Forlani, Sylvie; Mochel, Fanny; N'Guyen, Karine; Thauvin‐Robinet, Christel; Verny, Christophe; Milea, Dan; Lesca, Gaëtan; Koenig, Michel; Rodriguez, Diana; Houcinat, Nada; Van‐G... Journal: Annals of neurology Issue: Volume 78:Issue 6(2015:Dec.) Page Start: 871 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SCA13 causes dominantly inherited non-progressive myoclonus ataxia. (May 2017) Authors: Montaut, Solveig; Apartis, Emmanuelle; Chanson, Jean-Baptiste; Ewenczyk, Claire; Renaud, Mathilde; Guissart, Claire; Muller, Jean; Legrand, André Pierre; Durr, Alexandra; Laugel, Vincent; Koenig, Michel; Tranchant, Christine; Anheim, Mathieu Journal: Parkinsonism & related disorders Issue: Volume 38(2017) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Parkinsonian-Pyramidal syndromes: A systematic review. (June 2017) Authors: Tranchant, Christine; Koob, Meriam; Anheim, Mathieu Journal: Parkinsonism & related disorders Issue: Volume 39(2017) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Suggestive association between OPRM1 and impulse control disorders in Parkinson's disease. Issue 12 (16th November 2018) Authors: Cormier‐Dequaire, Florence; Bekadar, Samir; Anheim, Mathieu; Lebbah, Said; Pelissolo, Antoine; Krack, Paul; Lacomblez, Lucette; Lhommée, Eugénie; Castrioto, Anna; Azulay, Jean‐Philippe; Defebvre, Luc; Kreisler, Alexandre; Durif, Franck; Marques‐Raquel, Ana; Brefel‐Courbon, Christine; Grabli, Davi... Journal: Movement disorders Issue: Volume 33:Issue 12(2018) Page Start: 1878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019) Authors: Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh... Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. (4th June 2019) Authors: Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P.C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schöls, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria ... Journal: Neurology Issue: Volume 92:Number 23(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Increased diagnostic yield in complex dystonia through exome sequencing. (May 2020) Authors: Wirth, Thomas; Tranchant, Christine; Drouot, Nathalie; Keren, Boris; Mignot, Cyril; Cif, Laura; Lefaucheur, Romain; Lion-François, Laurence; Méneret, Aurélie; Gras, Domitille; Roze, Emmanuel; Laroche, Cécile; Burbaud, Pierre; Bannier, Stéphanie; Lagha-Boukbiza, Ouhaid; Spitz, Marie-Aude; Laugel, ... Journal: Parkinsonism & related disorders Issue: Volume 74(2020) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. Issue 7 (5th May 2020) Authors: Piard, Juliette; Béreau, Matthieu; XiangWei, Wenshu; Wirth, Thomas; Amsallem, Daniel; Buisson, Lauren; Richard, Philippe; Liu, Nana; Xu, Yuchen; Myers, Scott J.; Traynelis, Stephen F.; Chelly, Jameleddine; Anheim, Mathieu; Raynaud, Martine; Maldergem, Lionel Van; Yuan, Hongjie Journal: Movement disorders Issue: Volume 35:Issue 7(2020) Page Start: 1224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism. Issue 5 (10th January 2020) Authors: Wirth, Thomas; Mariani, Louise Laure; Bergant, Gaber; Baulac, Michel; Habert, Marie‐Odile; Drouot, Nathalie; Ollivier, Emmanuelle; Hodžić, Alenka; Rudolf, Gorazd; Nitschke, Patrick; Rudolf, Gabrielle; Chelly, Jamel; Tranchant, Christine; Anheim, Mathieu; Roze, Emmanuel Journal: Movement disorders Issue: Volume 35:Issue 5(2020) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. (4th May 2017) Authors: Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Loren... Journal: Current medical research and opinion Issue: Volume 33:Number 5(2017) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗