1. 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) ↗
2. Multiple System Atrophy: Phenotypic spectrum approach coupled with brain 18-FDG PET. (October 2019) Authors: Grimaldi, Stephan; Boucekine, Mohamed; Witjas, Tatiana; Fluchère, Frédérique; Renaud, Mathilde; Azulay, Jean-Philippe; Guedj, Eric; Eusebio, Alexandre Journal: Parkinsonism & related disorders Issue: Volume 67(2019) Page Start: 3 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. 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) ↗
5. Progression of Nigrostriatal Denervation in Cerebellar Multiple System Atrophy: A Prospective Study. (8th February 2022) Authors: Wirth, Thomas; Namer, Izzie Jacques; Monga, Ben; Bund, Caroline; Iosif, Andra Valentina; Gebus, Odile; Montaut, Solveig; Bogdan, Thomas; Robelin, Laura; Renaud, Mathilde; Kremer, Stéphane; Tranchant, Christine; Anheim, Mathieu Journal: Neurology Issue: Volume 98:Number 6(2022) Page Start: 232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
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. 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) ↗
9. 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) ↗
10. Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family. (May 2020) Authors: Pellerin, David; Ellezam, Benjamin; Korathanakhun, Pat; Renaud, Mathilde; Dicaire, Marie-Josée; Pilote, Léo; Levy, Jake P.; Karamchandani, Jason; Ducharme, Simon; Massie, Rami; Brais, Bernard Journal: Canadian journal of neurological sciences Issue: Volume 47:Number 3(2020) Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗