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Page 1
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Wictorin K, Puschmann A. Wictorin K, et al. Among authors: puschmann a. Neurol Neurochir Pol. 2020;54(1):3-5. doi: 10.5603/PJNNS.a2020.0013. Neurol Neurochir Pol. 2020. PMID: 32115676 Free article.
Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study.
Domenighetti C, Sugier PE, Ashok Kumar Sreelatha A, Schulte C, Grover S, Portugal B, Lee PC, May P, Bobbili D, Radivojkov Blagojevic M, Lichtner P, Singleton AB, Hernandez D, Edsall C, Mellick GD, Zimprich AA, Pirker W, Rogaeva EA, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli AL, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, Van De Warrenburg BPC, Bloem BR, Toft M, Pihlstrøm L, Correia Guedes L, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Hellberg C, Clarke CE, Morrison KE, Tan MM, Krainc D, Burbulla LF, Farrer M, Kruger R, Gasser T, Sharma M, Elbaz A; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (COURAGE-PD) Consortium. Domenighetti C, et al. Among authors: puschmann a. Neurology. 2024 Aug 13;103(3):e209620. doi: 10.1212/WNL.0000000000209620. Epub 2024 Jul 10. Neurology. 2024. PMID: 38986057
Is GBA1 T369M not a risk factor for Parkinson's disease in the Swedish population?
Brolin KA, Bäckström D, Wallenius J, Gan-Or Z, Puschmann A, Hansson O, Swanberg M. Brolin KA, et al. Among authors: puschmann a. medRxiv [Preprint]. 2024 Mar 16:2024.03.15.24304347. doi: 10.1101/2024.03.15.24304347. medRxiv. 2024. Update in: Parkinsonism Relat Disord. 2024 Oct 31;130:107191. doi: 10.1016/j.parkreldis.2024.107191 PMID: 38559109 Free PMC article. Updated. Preprint.
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers.
Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Augé A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guénel P; EPITHYR consortium; Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrøm L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen N, Ran C, Belin AC, Puschmann A, Rödström EY, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Kruger R, Gasser T, Sharma M; Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease… See abstract for full author list ➔ Sugier PE, et al. Among authors: puschmann a. Mov Disord. 2023 Apr;38(4):604-615. doi: 10.1002/mds.29337. Epub 2023 Feb 14. Mov Disord. 2023. PMID: 36788297 Free PMC article.
New generation genetic testing entering the clinic.
Gorcenco S, Ilinca A, Almasoudi W, Kafantari E, Lindgren AG, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Parkinsonism Relat Disord. 2020 Apr;73:72-84. doi: 10.1016/j.parkreldis.2020.02.015. Epub 2020 Mar 2. Parkinsonism Relat Disord. 2020. PMID: 32273229 Free article. Review.
An African-American family with dystonia.
Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK. Puschmann A, et al. Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20. Parkinsonism Relat Disord. 2011. PMID: 21601506 Free PMC article.
126 results