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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: perlmutter js. medRxiv [Preprint]. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741. medRxiv. 2024. Update in: Ann Clin Transl Neurol. 2025 Aug;12(8):1648-1659. doi: 10.1002/acn3.70100. PMID: 39677454 Free PMC article. Updated. Preprint.
A Comprehensive Study of Circulating Blood Linear RNA nominates CD55 and DLD as novel causal genes and early-stage biomarkers for Parkinson's Disease.
Beric A, Sahin S, Sanchez S, Yang Z, Kumar R, Alfradique-Dunham I, Sanford J, Western D, Phillips B, Budde JP, Perrin RJ, Kotzbauer PT, Perlmutter JS, Norris SA, Cruchaga C, Ibanez L. Beric A, et al. Among authors: perlmutter js. medRxiv [Preprint]. 2025 Jun 20:2025.06.20.25329948. doi: 10.1101/2025.06.20.25329948. medRxiv. 2025. Update in: Brain. 2026 Jan 13:awag014. doi: 10.1093/brain/awag014. PMID: 40585127 Free PMC article. Updated. Preprint.
Plasma acellular transcriptome contains Parkinson's disease signatures that can inform clinical diagnosis.
Beric A, Cisterna-García A, Martin C, Kumar R, Alfradique-Dunham I, Boyer K, Saliu IO, Yamada S, Sanford J, Western D, Liu M, Alvarez I, Perlmutter JS, Norris SA, Pastor P, Zhao G, Botia J, Ibanez L. Beric A, et al. Among authors: perlmutter js. medRxiv [Preprint]. 2024 Oct 18:2024.10.18.24315717. doi: 10.1101/2024.10.18.24315717. medRxiv. 2024. PMID: 39484251 Free PMC article. Preprint.
Using Expert-Cited Features to Detect Leg Dystonia in Cerebral Palsy.
Bajpai R, Rust A, Lott E, Kim S, Gandham S, Chintalapati K, Blackburn J, Gelineau-Morel R, Kruer MC, Mingbunjerdsuk D, O'Malley J, Tochen L, Waugh JL, Wu S, Feyma T, Perlmutter JS, Aravamuthan BR. Bajpai R, et al. Among authors: perlmutter js. Ann Neurol. 2026 Jan 18. doi: 10.1002/ana.78130. Online ahead of print. Ann Neurol. 2026. PMID: 41549584
480 results