1. A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia. Issue 4 (12th May 2014) Authors: Santner, Wolfram; Schocke, Michael; Boesch, Sylvia; Nachbauer, Wolfgang; Egger, Karl Journal: Acta radiologica short reports Issue: Volume 3:Issue 4(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. (April 2022) Authors: Garavaglia, Barbara; Vallian, Sadeq; Romito, Luigi M.; Straccia, Giulia; Capecci, Marianna; Invernizzi, Federica; Andrenelli, Elisa; Kazemi, Arezu; Boesch, Sylvia; Kopajtich, Robert; Olfati, Nahid; Shariati, Mohammad; Shoeibi, Ali; Sadr-Nabavi, Ariane; Prokisch, Holger; Winkelmann, Juliane; Zech,... Journal: Parkinsonism & related disorders Issue: Volume 97(2022) Page Start: 52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Issue 1 (1st October 2021) Authors: Zech, Michael; Kumar, Kishore R.; Reining, Sophie; Reunert, Janine; Tchan, Michel; Riley, Lisa G.; Drew, Alexander P.; Adam, Robert J.; Berutti, Riccardo; Biskup, Saskia; Derive, Nicolas; Bakhtiari, Somayeh; Jin, Sheng Chih; Kruer, Michael C.; Bardakjian, Tanya; Gonzalez‐Alegre, Pedro; Keller Sar... Journal: Movement disorders Issue: Volume 37:Issue 1(2022) Page Start: 137 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. Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group. Issue 4 (17th September 2021) Authors: Harding, Ian H.; Chopra, Sidhant; Arrigoni, Filippo; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Corben, Louise A.; Deistung, Andreas; Delatycki, Martin; Diciotti, Stefano; Dogan, Imis; Evangelisti, Stefania; França, Marcondes C.; Göricke, Sophia L.; Georgiou‐Karistianis, Nellie; Gramegna, ... Journal: Annals of neurology Issue: Volume 90:Issue 4(2021) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. (5th September 2017) Authors: Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Boesch, Sylvia; Eigentler, Andreas; van de Warrenburg, Bart; van Gaalen, Judith; Kamm, Christoph; Dudesek, ... Journal: Neurology Issue: Volume 89:Number 10(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical exome sequencing in early‐onset generalized dystonia and large‐scale resequencing follow‐up. Issue 4 (26th September 2016) Authors: Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos‐Baumann, Andres; Strom, Tim M.; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, J... Journal: Movement disorders Issue: Volume 32:Issue 4(2017) Page Start: 549 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. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia. (March 2021) Authors: Zech, Michael; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Švantnerová, Jana; Wagner, Matias; Dincer, Yasemin; Sadr-Nabavi, Ariane; Serranová, Tereza; Rektorová, Irena; Havránková, Petra; Ganai, Shahzaman; Mosejová, Alexandra; Příhodová, Iva; Šarláková, Jana; Kulcsarová, Kristína; Ulmanová, Ol... Journal: Parkinsonism & related disorders Issue: Volume 84(2021) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗