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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Bhasin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Ch… See abstract for full author list ➔ Schmidt A, et al. Among authors: baumer t. Nat Genet. 2025 Jun 24. doi: 10.1038/s41588-025-02271-6. Online ahead of print. Nat Genet. 2025. PMID: 40555819 No abstract available.
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, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, 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: baumer t. Ann Clin Transl Neurol. 2025 Jun 18. doi: 10.1002/acn3.70100. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 40533913 Free article.
Shortening antibiotic therapy duration for hospital-acquired bloodstream infections in critically ill patients: a causal inference model from the international EUROBACT-2 database.
Gajdos L, Buetti N, Tabah A, Ruckly S, Akova M, Sjöval F, Arvanti K, de Waele J, Bracht H, Barbier F, Timsit JF; EUROBACT-2 Study Group, the European Society of Intensive Care Medicine (ESICM), the European Society of Clinical Microbiology, the Infectious Diseases (ESCMID) Study Group for Infections in Critically Ill Patients (ESGCIP) and the OUTCOMEREA Network. Gajdos L, et al. Intensive Care Med. 2025 Mar;51(3):518-528. doi: 10.1007/s00134-025-07857-6. Epub 2025 Apr 7. Intensive Care Med. 2025. PMID: 40192823
Response to: 'Hyperbinding' in functional movement disorders: role of supplementary motor area efferent signalling.
Pastötter B, Weissbach A, Takacs A, Moyé J, Verrel J, Chwolka F, Friedrich J, Paulus T, Zittel S, Bäumer T, Frings C, Beste C, Münchau A. Pastötter B, et al. Among authors: baumer t. Brain Commun. 2025 Feb 24;7(1):fcae465. doi: 10.1093/braincomms/fcae465. eCollection 2025. Brain Commun. 2025. PMID: 39995656 Free PMC article. No abstract available.
Functional movement disorders in dopa-responsive dystonia.
Hamami F, Prasuhn J, Well LV, Lohmann K, Klein C, Brüggemann N, Bäumer T, Münchau A, Weissbach A. Hamami F, et al. Among authors: baumer t. Parkinsonism Relat Disord. 2025 Mar;132:107292. doi: 10.1016/j.parkreldis.2025.107292. Epub 2025 Jan 19. Parkinsonism Relat Disord. 2025. PMID: 39848138 Free article.
Factor analysis and clustering of motor and psychiatric dimensions in idiopathic blepharospasm.
Gigante AF, Hallett M, Jinnah HA, Berardelli A, Perlmutter JS, Berman BD, Jankovic J, Bäumer T, Comella C, Ercoli T, Belvisi D, Fox SH, Kim HJ, Moukheiber ES, Richardson SP, Weissbach A, Muroni A, Defazio G. Gigante AF, et al. Among authors: baumer t. Parkinsonism Relat Disord. 2025 Feb;131:107241. doi: 10.1016/j.parkreldis.2024.107241. Epub 2024 Dec 16. Parkinsonism Relat Disord. 2025. PMID: 39731886
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: baumer t. 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 Jun 18. doi: 10.1002/acn3.70100. PMID: 39677454 Free PMC article. Updated. Preprint.
220 results