1. 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) ↗
2. 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) ↗
3. Atypical Parkinson Syndrome Hiding a Meningioma. (December 2019) Authors: Bund, Caroline; Ouvrard, Eric; Renaud, Mathilde; Tranchant, Christine; Namer, Izzie-Jacques Journal: Clinical nuclear medicine Issue: Volume 44:Number 12(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. Brain 18F-FDG PET in Cowden Syndrome. (February 2022) Authors: Grangeret, Justine; Frismand, Solene; Muller, Marie; Renaud, Mathilde; Verger, Antoine Journal: Clinical nuclear medicine Issue: Volume 47:Number 2(2022) Page Start: e118 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Brain 18F-FDG PET in Cowden Syndrome. (February 2022) Authors: Grangeret, Justine; Frismand, Solene; Muller, Marie; Renaud, Mathilde; Verger, Antoine Journal: Clinical nuclear medicine Issue: Volume 47:Number 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Delayed‐onset Friedreich's ataxia revisited. Issue 1 (21st September 2015) Authors: Lecocq, Claire; Charles, Perrine; Azulay, Jean‐Philippe; Meissner, Wassilios; Rai, Myriam; N'Guyen, Karine; Péréon, Yann; Fabre, Nelly; Robin, Elsa; Courtois, Sylvie; Guyant‐Maréchal, Lucie; Zagnoli, Fabien; Rudolf, Gabrielle; Renaud, Mathilde; Sévin‐Allouet, Mathieu; Lesne, Fabien; Alaerts, Nick... Journal: Movement disorders Issue: Volume 31:Issue 1(2016) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. First report of a short in‐frame biallelic deletion removing part of the EGF‐like domain calcium‐binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C. Issue 11 (16th August 2022) Authors: Ravel, Jean‐Marie; Comel, Margot; Wandzel, Marion; Bronner, Myriam; Tatopoulos, Aurélie; Renaud, Mathilde; Lambert, Laëtitia; Bursztejn, Anne‐Claire; Bonnet, Céline Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3343 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. Issue 12 (2nd September 2016) Authors: Marelli, Cecilia; Guissart, Claire; Hubsch, Cecile; Renaud, Mathilde; Villemin, Jean‐Philippe; Larrieu, Lise; Charles, Perrine; Ayrignac, Xavier; Sacconi, Sabrina; Collignon, Patrick; Cuntz‐Shadfar, Danielle; Perrin, Laurine; Benarrosh, Anelia; Degardin, Adrian; Lagha‐Boukbiza, Ouhaïd; Mutez, Eug... Journal: Human mutation Issue: Volume 37:Issue 12(2016) Page Start: 1340 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗