1. A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity. Issue 6 (11th August 2014) Authors: Tchikviladzé, Maya; Gilleron, Mylène; Maisonobe, Thierry; Galanaud, Damien; Laforêt, Pascal; Durr, Alexandra; Eymard, Bruno; Mochel, Fanny; Ogier, Hélène; Béhin, Anthony; Stojkovic, Tanya; Degos, Bertrand; Gourfinkel-An, Isabelle; Sedel, Frederic; Anheim, Mathieu; Elbaz, Alexis; Viala, Karine; Vi... Other Names: Lemière Isabelle author non-byline.; Filaut Sandrine author non-byline.; Dubourg Odile author non-byline. Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 6(2015) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia. Issue 2 (24th November 2021) Authors: Khan, Amjad; Molitor, Anne; Mayeur, Sylvain; Zhang, Gaoqun; Rinaldi, Bruno; Lannes, Béatrice; Lhermitte, Benoît; Umair, Muhammad; Arold, Stefan T.; Friant, Sylvie; Rastegar, Sepand; Anheim, Mathieu; Bahram, Seiamak; Carapito, Raphael Journal: Movement disorders Issue: Volume 37:Issue 2(2022) Page Start: 365 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A recessive ataxia diagnosis algorithm for the next generation sequencing era. Issue 6 (21st November 2017) Authors: Renaud, Mathilde; Tranchant, Christine; Martin, Juan Vicente Torres; Mochel, Fanny; Synofzik, Matthis; van de Warrenburg, Bart; Pandolfo, Massimo; Koenig, Michel; Kolb, Stefan A.; Anheim, Mathieu Other Names: Alonso Isabel investigator.; Azzedine Hamid investigator.; Barbot Clara investigator.; Bereau Matthieu investigator.; Berkovic Sam investigator.; Bernard Geneviéve investigator.; Bindoff Laurence A. investigator.; Bompaire Flavie investigator.; Bonneau Dominique investigator.; Bonneau Patrizia in... Journal: Annals of neurology Issue: Volume 82:Issue 6(2017) Page Start: 892 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3. Issue 1 (December 2016) Authors: Renaud, Mathilde; Marcel, Christophe; Rudolf, Gabrielle; Schaeffer, Mickaël; Lagha-Boukbiza, Ouhaïd; Chanson, Jean-Baptiste; Chelly, Jamel; Anheim, Mathieu; Tranchant, Christine Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome. (22nd November 2019) Authors: Depienne, Christel; Ciura, Sorana; Trouillard, Oriane; Bouteiller, Delphine; Leitão, Elsa; Nava, Caroline; Keren, Boris; Marie, Yannick; Guegan, Justine; Forlani, Sylvie; Brice, Alexis; Anheim, Mathieu; Agid, Yves; Krack, Paul; Damier, Philippe; Viallet, François; Houeto, Jean-Luc; Durif, Franck;... Journal: Tremor and other hyperkinetic movements Issue: Volume 9(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Author Response: Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study. (14th June 2022) Authors: Wirth, Thomas; Namer, Izzie Jacques; Monga, Ben; Bund, Caroline; Iosif, Andra; Gebus, Odile; Montaut, Solveig; Bogdan, Thomas; Robelin, Laura; Renaud, Mathilde; Kremer, Stéphane; Tranchant, Christine; Anheim, Mathieu Journal: Neurology Issue: Volume 98:Number 24(2022) Page Start: 1034 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker. Issue 12 (12th October 2020) Authors: Renaud, Mathilde; Tranchant, Christine; Koenig, Michel; Anheim, Mathieu Journal: Movement disorders Issue: Volume 35:Issue 12(2020) Page Start: 2139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Characterization of Recessive Parkinson Disease in a Large Multicenter Study. Issue 4 (28th July 2020) Authors: Lesage, Suzanne; Lunati, Ariane; Houot, Marion; Romdhan, Sawssan Ben; Clot, Fabienne; Tesson, Christelle; Mangone, Graziella; Toullec, Benjamin Le; Courtin, Thomas; Larcher, Kathy; Benmahdjoub, Mustapha; Arezki, Mohamed; Bouhouche, Ahmed; Anheim, Mathieu; Roze, Emmanuel; Viallet, François; Tison,... Other Names: Lesage Suzanne investigator.; Lunati Ariane investigator.; Houot Marion investigator.; Ben Romdhan Sawssan investigator.; Clot Fabienne investigator.; Tesson Christelle investigator.; Mangone Graziella investigator.; Le Toullec Benjamin investigator.; Courtin Thomas investigator.; Larcher Kathy i... Journal: Annals of neurology Issue: Volume 88:Issue 4(2020) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗