1. A randomized, double‐blind, placebo‐controlled trial evaluating cysteamine in Huntington's disease. Issue 6 (24th April 2017) Authors: Verny, Christophe; Bachoud‐Lévi, Anne‐Catherine; Durr, Alexandra; Goizet, Cyril; Azulay, Jean‐Philippe; Simonin, Clémence; Tranchant, Christine; Calvas, Fabienne; Krystkowiak, Pierre; Charles, Perrine; Youssov, Katia; Scherer, Clarisse; Prundean, Adriana; Olivier, Audrey; Reynier, Pascal; Saudou,... Journal: Movement disorders Issue: Volume 32:Issue 6(2017) Page Start: 932 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data. Issue 2 (February 2015) Authors: Reetz, Kathrin; Dogan, Imis; Costa, Ana S; Dafotakis, Manuel; Fedosov, Kathrin; Giunti, Paola; Parkinson, Michael H; Sweeney, Mary G; Mariotti, Caterina; Panzeri, Marta; Nanetti, Lorenzo; Arpa, Javier; Sanz-Gallego, Irene; Durr, Alexandra; Charles, Perrine; Boesch, Sylvia; Nachbauer, Wolfgang; Kl... Journal: Lancet neurology Issue: Volume 14:Issue 2(2015:Feb.) Page Start: 174 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression. Issue 5 (11th August 2017) Authors: Diallo, Alhassane; Jacobi, Heike; Schmitz‐Hübsch, Tanja; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schöls, Ludger; Hengel, Holger; Melegh, Bela... Journal: Movement disorders clinical practice Issue: Volume 4:Issue 5(2017) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. F15 Clinical profile of small expansion carriers with 36–38 CAG HTT repeats: a multicentric retrospective study. (12th September 2022) Authors: Heinzmann, Anna; Sayah, Sabrina; Lejeune, Francois Xavier; Hahn, Valérie; Teichmann, Marc; Monin, Marie Lorraine; Marchionni, Enrica; Gérard, Fleur; Charles, Perrine; Pariente, Jérémie; Durr, Alexandra Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93(2022)Supplement 1 Page Start: A41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. G05 High penetrance and frequent severe psychiatric manifestations in patients with 36–38 cag HTT repeats. (September 2018) Authors: Marchionni, Enrica; Monin, Marie-Lorraine; Sayah, Sabrina; Brice, Alexis; Charles, Perrine; Durr, Alexandra Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89(2018)Supplement 1 Page Start: A67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. Issue 6 (12th June 2012) Authors: Thevenon, Julien; Lopez, Estelle; Keren, Boris; Heron, Delphine; Mignot, Cyril; Altuzarra, Cecilia; Béri-Dexheimer, Mylène; Bonnet, Céline; Magnin, Eloi; Burglen, Lydie; Minot, Delphine; Vigneron, Jacqueline; Morle, Sophie; Anheim, Mathieu; Charles, Perrine; Brice, Alexis; Gallagher, Louise; Amie... Journal: Journal of medical genetics Issue: Volume 49:Issue 6(2012) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗