1. A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7. Issue 1 (December 2016) Authors: Moriarty, Amy; Cook, Arron; Hunt, Helen; Adams, Matthew; Cipolotti, Lisa; Giunti, Paola Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A01 Determining the CAG repeat mosaic in post-mortem human HD brains. (September 2018) Authors: Ging, Heather; Nethisinghe, Suran; Chatzi, Afroditi; Ciosi, Marc; Monckton, Darren G; Giunti, Paola Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89(2018)Supplement 1 Page Start: A1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Advances in the understanding of hereditary ataxia – implications for future patients. (4th March 2018) Authors: Zeitlberger, Anna; Ging, Heather; Nethisinghe, Suran; Giunti, Paola Journal: Expert opinion on orphan drugs Issue: Volume 6:Number 3(2018) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Analysis of Friedreich's ataxia patient clinical data reveals importance of accurate GAA repeat determination in disease prognosis and gender differences in cardiac measures. (2019) Authors: Ghorbani, Mohammadmersad; Pousset, Françoise; Tucker, Allan; Swift, Stephen; Giunti, Paola; Parkinson, Michael; Gilbert, David; Liu, XiaoHui; Payne, Annette Journal: Informatics in medicine unlocked Issue: Volume 17(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. B48 DNA repair pathways as a common genetic mechanism modulating the age at onset in polyglutamine diseases. (13th September 2016) Authors: Bettencourt, Conceição; Moss, Davina Hensman; Flower, Michael; Wiethoff, Sarah; Brice, Alexis; Goizet, Cyril; Stevanin, Giovanni; Koutsis, Georgios; Karadima, Georgia; Panas, Marios; Yescas-Gómez, Petra; García-Velázquez, Lizbeth Esmeralda; Alonso-Vilatela, María Elisa; Lima, Manuela; Raposo, Maf... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87(2016)Supplement 1 Page Start: A26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity. Issue 2 (29th October 2021) Authors: Hengel, Holger; Martus, Peter; Faber, Jennifer; Garcia‐Moreno, Hector; Solanky, Nita; Giunti, Paola; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P.; Pereira de Almeida, Luís; Santana, Magda M.; Januário, Cristina; Silva, Patrick; Thieme, Andreas; Infante, Jon; de Vries, Jeroen; L... Journal: Movement disorders Issue: Volume 37:Issue 2(2022) Page Start: 405 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical features of Friedreich's ataxia: classical and atypical phenotypes. (17th July 2013) Authors: Parkinson, Michael H.; Boesch, Sylvia; Nachbauer, Wolfgang; Mariotti, Caterina; Giunti, Paola Journal: Journal of neurochemistry Issue: Volume 126(2013)Supplement 1 Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical relevance and utility of GAD65 antibodies in neurological disease: an eight year cohort study. Issue 9 (12th August 2022) Authors: Brown, Rachel; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Chapman, Miles; Chou, Michael; Hart, Melanie; Fleszar, Zofia; Zandi, Michael; Giunti, Paola; Lunn, Michael P Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 9(2022) Page Start: e2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗