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Page 1
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Shukla AAW, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Thomsen M, et al. Among authors: kilic berkmen g. medRxiv [Preprint]. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741. medRxiv. 2024. PMID: 39677454 Free PMC article. Preprint.
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR. Laabs BH, et al. Among authors: kilic berkmen g. Mov Disord. 2024 Nov;39(11):2110-2116. doi: 10.1002/mds.29968. Epub 2024 Sep 17. Mov Disord. 2024. PMID: 39287592
Sex Differences in Dystonia.
Kilic-Berkmen G, Scorr LM, McKay L, Thayani M, Donsante Y, Perlmutter JS, Norris SA, Wright L, Klein C, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Pirio-Richardson S, Pantelyat A, Moukheiber E, Frank S, Ondo W, Saunders-Pullman R, Lohmann K, Hess EJ, Jinnah HA. Kilic-Berkmen G, et al. Mov Disord Clin Pract. 2024 Aug;11(8):973-982. doi: 10.1002/mdc3.14059. Epub 2024 May 22. Mov Disord Clin Pract. 2024. PMID: 38778444
Blood-Based Proteomics for Adult-Onset Focal Dystonias.
Timsina J, Dinasarapu A, Kilic-Berkmen G, Budde J, Sung YJ, Klein AM, Cruchaga C, Jinnah HA. Timsina J, et al. Among authors: kilic berkmen g. Ann Neurol. 2024 Jul;96(1):110-120. doi: 10.1002/ana.26929. Epub 2024 Apr 5. Ann Neurol. 2024. PMID: 38578115
Exploration of potential immune mechanisms in cervical dystonia.
Scorr LM, Kilic-Berkmen G, Sutcliffe DJ, Dinasarapu AR, McKay JL, Bagchi P, Powell MD, Boss JM, Cereb N, Little M, Gragert L, Hanfelt J, McKeon A, Tyor W, Jinnah HA. Scorr LM, et al. Among authors: kilic berkmen g. Parkinsonism Relat Disord. 2024 May;122:106036. doi: 10.1016/j.parkreldis.2024.106036. Epub 2024 Feb 17. Parkinsonism Relat Disord. 2024. PMID: 38462403 Free PMC article.
Thyroid disease and cervical dystonia.
Kilic-Berkmen G, Scorr LM, Defazio G, Jinnah HA. Kilic-Berkmen G, et al. Parkinsonism Relat Disord. 2024 Sep;126:106082. doi: 10.1016/j.parkreldis.2024.106082. Epub 2024 Mar 2. Parkinsonism Relat Disord. 2024. PMID: 38458834 No abstract available.
An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.
Boz D, Kilic-Berkmen G, Perlmutter JS, Norris SA, Wright LJ, Klein C, Bäumer T, Löns S, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Ondo W, Pantelyat A, Frank S, Saunders-Pullman R, Jinnah HA. Boz D, et al. Among authors: kilic berkmen g. Mov Disord Clin Pract. 2023 Nov 12;10(12):1777-1786. doi: 10.1002/mdc3.13909. eCollection 2023 Dec. Mov Disord Clin Pract. 2023. PMID: 38094647 Free PMC article.
Thyroid disease in cervical dystonia.
Kilic-Berkmen G, Scorr LM, Rosen A, Wu E, Freeman A, Silver M, Hanfelt J, Jinnah HA. Kilic-Berkmen G, et al. Parkinsonism Relat Disord. 2023 Feb;107:105274. doi: 10.1016/j.parkreldis.2022.105274. Epub 2022 Dec 30. Parkinsonism Relat Disord. 2023. PMID: 36621155 Free PMC article.
19 results