1. 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) ↗
2. Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia. Issue 8 (18th June 2019) Authors: Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Giunti, Paola; Parkinson, Michael H.; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Castaldo, Anna; Rakowicz, Maria; Rola, Rafal; Sulek, Anna; Schmitz‐Hübsch, ... Journal: Movement disorders Issue: Volume 34:Issue 8(2019) Page Start: 1220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Issue 5 (May 2021) Authors: Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; Rodríguez de Rivera Garrido, Francisco Javier; Rummey, Christi... Journal: Lancet neurology Issue: Volume 20:Issue 5(2021) Page Start: 362 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Issue 4 (April 2018) Authors: Diallo, Alhassane; Jacobi, Heike; Cook, Arron; Labrum, Robyn; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sobanska, Anna; Sulek, Anna; Schmitz-Hübsch, Tanja; Schöls, Ludger; Hengel, Holger; Melegh, Bela... Journal: Lancet neurology Issue: Volume 17:Issue 4(2018) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia. Issue 3 (March 2016) Authors: Galea, Charles A.; Huq, Aamira; Lockhart, Paul J.; Tai, Geneieve; Corben, Louise A.; Yiu, Eppie M.; Gurrin, Lyle C.; Lynch, David R.; Gelbard, Sarah; Durr, Alexandra; Pousset, Francoise; Parkinson, Michael; Labrum, Robyn; Giunti, Paola; Perlman, Susan L.; Delatycki, Martin B.; Evans‐Galea, Margue... Journal: Annals of neurology Issue: Volume 79:Issue 3(2016:Mar.) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Issue 11 (November 2015) Authors: Jacobi, Heike; du Montcel, Sophie Tezenas; Bauer, Peter; Giunti, Paola; Cook, Arron; Labrum, Robyn; Parkinson, Michael H; Durr, Alexandra; Brice, Alexis; Charles, Perrine; Marelli, Cecilia; Mariotti, Caterina; Nanetti, Lorenzo; Panzeri, Marta; Rakowicz, Maria; Sulek, Anna; Sobanska, Anna; Schmitz... Journal: Lancet neurology Issue: Volume 14:Issue 11(2015:Nov.) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Issue 6 (1st April 2021) Authors: Poole, Olivia V.; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L.; Bugiardini, Enrico; Woodward, Cathy E.; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A.; Gregory, Allison; Hayflick, Susan... Other Names: Alkhawaja Issam investigator.; Banu Selina investigator.; Bonsignore Maria investigator.; Breza Marianthi investigator.; Di Rosa Gabriella investigator.; Heidari Morteza investigator.; Koutsis Georgios investigator.; van den Maagdenberg Arn M.J.M. investigator.; Macaya Alfons investigator.; Münch... Journal: Annals of neurology Issue: Volume 89:Issue 6(2021) Page Start: 1240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Issue 3 (March 2022) Authors: Ibañez, Kristina; Polke, James; Hagelstrom, R Tanner; Dolzhenko, Egor; Pasko, Dorota; Thomas, Ellen Rachel Amy; Daugherty, Louise C; Kasperaviciute, Dalia; Smith, Katherine R; Deans, Zandra C; Hill, Sue; Fowler, Tom; Scott, Richard H; Hardy, John; Chinnery, Patrick F; Houlden, Henry; Rendon, Augu... Journal: Lancet neurology Issue: Volume 21:Issue 3(2022) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗