1. A relatively common hypomorphic variant in WARS2 causes monogenic disease. (January 2022) Authors: Ilinca, Andreea; Kafantari, Efthymia; Puschmann, Andreas Journal: Parkinsonism & related disorders Issue: Volume 94(2022) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Abstracts of the IAPRD XXV World Congress on Parkinson's Disease and Related Disorders, 2020. Congress theme: Diagnosing and treating movement disorders in the era of personalized medicine. (October 2020) Authors: Fujioka, Shinsuke; Puschmann, Andreas Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Supplement 1 Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Alpha‐synuclein repeat variants and survival in Parkinson's disease. Issue 8 (27th February 2014) Authors: Chung, Sun Ju; Biernacka, Joanna M.; Armasu, Sebastian M.; Anderson, Kari; Frigerio, Roberta; Aasly, Jan O.; Annesi, Grazia; Bentivoglio, Anna Rita; Brighina, Laura; Chartier‐Harlin, Marie‐Christine; Goldwurm, Stefano; Hadjigeorgiou, Georgios; Jasinska‐Myga, Barbara; Jeon, Beom Seok; Kim, Yun Joo... Journal: Movement disorders Issue: Volume 29:Issue 8(2014) Page Start: 1053 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ataxia-pancytopenia syndrome with SAMD9L mutations. (October 2017) Authors: Gorcenco, Sorina; Komulainen-Ebrahim, Jonna; Nordborg, Karin; Suo-Palosaari, Maria; Andréasson, Sten; Krüger, Johanna; Nilsson, Christer; Kjellström, Ulrika; Rahikkala, Elisa; Turkiewicz, Dominik; Karlberg, Mikael; Nilsson, Lars; Cammenga, Jörg; Tedgård, Ulf; Davidsson, Josef; Uusimaa, Johanna; P... Journal: Neurology Issue: Volume 3:Number 5(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal dominant Parkinson's disease caused by SNCA duplications. (January 2016) Authors: Konno, Takuya; Ross, Owen A.; Puschmann, Andreas; Dickson, Dennis W.; Wszolek, Zbigniew K. Journal: Parkinsonism & related disorders Issue: Volume 22(2016)Supplement 1 Page Start: S1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. CHCHD2 and Parkinson's disease. Issue 7 (July 2015) Authors: Puschmann, Andreas; Dickson, Dennis W; Englund, Elisabet; Wszolek, Zbigniew K; Ross, Owen A Journal: Lancet neurology Issue: Volume 14:Issue 7(2015:Jul.) Page Start: 679 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement. Issue 7 (July 2015) Authors: Puschmann, Andreas; Brighina, Laura; Markopoulou, Katerina; Aasly, Jan; Chung, Sun Ju; Frigerio, Roberta; Hadjigeorgiou, Georgios; Kõks, Sulev; Krüger, Rejko; Siuda, Joanna; Wider, Christian; Zesiewicz, Theresa A.; Maraganore, Demetrius M. Journal: Parkinsonism & related disorders Issue: Volume 21:Issue 7(2015) Page Start: 675 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study. Issue 4 (8th January 2022) Authors: Domenighetti, Cloé; Sugier, Pierre‐Emmanuel; Ashok Kumar Sreelatha, Ashwin; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, Berta; May, Patrick; Bobbili, Dheeraj R.; Radivojkov‐Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B.; Hernandez, Dena G.; Edsall, Connor; Mellick, Ge... Journal: Movement disorders Issue: Volume 37:Issue 4(2022) Page Start: 857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?. (October 2020) Authors: Kafantari, Efthymia; Andréasson, Sten; Säll, Torbjörn; Puschmann, Andreas Journal: Parkinsonism & related disorders Issue: Volume 79(2020) Page Start: 138 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium. (16th August 2022) Authors: Grover, Sandeep; Kumar Sreelatha, Ashwin Ashok; Pihlstrom, Lasse; Domenighetti, Cloé; Schulte, Claudia; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Mohamed, Océane; Portugal, Berta; Landoulsi, Zied; May, Patrick; Bobbili, Dheeraj; Edsall, Connor; Bartusch, Felix; Hanu... Journal: Neurology Issue: Volume 99:Number 7(2022) Page Start: e698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗