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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: loens s. 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: loens s. Mov Disord. 2024 Nov;39(11):2110-2116. doi: 10.1002/mds.29968. Epub 2024 Sep 17. Mov Disord. 2024. PMID: 39287592
Impact of Physiotherapy in the Treatment of Pain in Cervical Dystonia.
Jacksch C, Loens S, Mueller J, Tadic V, Bäumer T, Zeuner KE. Jacksch C, et al. Among authors: loens s. Tremor Other Hyperkinet Mov (N Y). 2024 Mar 6;14:11. doi: 10.5334/tohm.867. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38464912 Free PMC article.
Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.
Thomsen M, Marth K, Loens S, Everding J, Junker J, Borngräber F, Ott F, Jesús S, Gelderblom M, Odorfer T, Kuhlenbäumer G, Kim HJ, Schaeffer E, Becktepe J, Kasten M, Brüggemann N, Pfister R, Kollewe K, Krauss JK, Lohmann E, Hinrichs F, Berg D, Jeon B, Busch H, Altenmüller E, Mir P, Kamm C, Volkmann J, Zittel S, Ferbert A, Zeuner KE, Rolfs A, Bauer P, Kühn AA, Bäumer T, Klein C, Lohmann K. Thomsen M, et al. Among authors: loens s. Mov Disord. 2024 Mar;39(3):526-538. doi: 10.1002/mds.29693. Epub 2024 Jan 12. Mov Disord. 2024. PMID: 38214203
Tremor is associated with familial clustering of dystonia.
Loens S, Hamami F, Lohmann K, Odorfer T, Ip CW, Zittel S, Zeuner KE, Everding J, Becktepe J, Marth K, Borngräber F, Kollewe K, Kamm C, Kühn AA, Gelderblom M, Volkmann J, Klein C, Bäumer T. Loens S, et al. Parkinsonism Relat Disord. 2023 May;110:105400. doi: 10.1016/j.parkreldis.2023.105400. Epub 2023 Apr 12. Parkinsonism Relat Disord. 2023. PMID: 37086575
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Sun YV, Li C, Hui Q, Huang Y, Barbano R, Rodriguez R, Malaty IA, Reich S, Bambarger K, Holmes K, Jankovic J, Patel NJ, Roze E, Vidailhet M, Berman BD, LeDoux MS, Espay AJ, Agarwal P, Pirio-Richardson S, Frank SA, Ondo WG, Saunders-Pullman R, Chouinard S, Natividad S, Berardelli A, Pantelyat AY, Brashear A, Fox SH, Kasten M, Krämer UM, Neis M, Bäumer T, Loens S, Borsche M, Zittel S, Maurer A, Gelderblom M, Volkmann J, Odorfer T, Kühn AA, Borngräber F, König IR, Cruchaga C, Cotton AC, Kilic-Berkmen G, Freeman A, Factor SA, Scorr L, Bremner JD, Vaccarino V, Quyyumi AA, Klein C, Perlmutter JS, Lohmann K, Jinnah HA. Sun YV, et al. Among authors: loens s. Mov Disord. 2021 Dec;36(12):2795-2801. doi: 10.1002/mds.28732. Epub 2021 Jul 28. Mov Disord. 2021. PMID: 34320236 Free PMC article.
Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.
Lange LM, Junker J, Loens S, Baumann H, Olschewski L, Schaake S, Madoev H, Petkovic S, Kuhnke N, Kasten M, Westenberger A, Domingo A, Marras C, König IR, Camargos S, Ozelius LJ, Klein C, Lohmann K. Lange LM, et al. Among authors: loens s. Mov Disord. 2021 May;36(5):1086-1103. doi: 10.1002/mds.28485. Epub 2021 Jan 27. Mov Disord. 2021. PMID: 33502045 Review.
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