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Page 1
Myopathy as a first symptom of Huntington's disease in a Marathon runner.
Kosinski CM, Schlangen C, Gellerich FN, Gizatullina Z, Deschauer M, Schiefer J, Young AB, Landwehrmeyer GB, Toyka KV, Sellhaus B, Lindenberg KS. Kosinski CM, et al. Among authors: deschauer m. Mov Disord. 2007 Aug 15;22(11):1637-40. doi: 10.1002/mds.21550. Mov Disord. 2007. PMID: 17534945
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.
Koch JC, Leha A, Bidner H, Cordts I, Dorst J, Günther R, Zeller D, Braun N, Metelmann M, Corcia P, De La Cruz E, Weydt P, Meyer T, Großkreutz J, Soriani MH, Attarian S, Weishaupt JH, Weyen U, Kuttler J, Zurek G, Rogers ML, Feneberg E, Deschauer M, Neuwirth C, Wuu J, Ludolph AC, Schmidt J, Remane Y, Camu W, Friede T, Benatar M, Weber M, Lingor P; ROCK-ALS Study group. Koch JC, et al. Among authors: deschauer m. Lancet Neurol. 2024 Nov;23(11):1133-1146. doi: 10.1016/S1474-4422(24)00373-9. Lancet Neurol. 2024. PMID: 39424560 Free article. Clinical Trial.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.
Mandler JM, Härtl J, Cordts I, Sturm M, Hedderich DM, Bafligil C, Baki E, Becker B, Machetanz G, Haack TB, Berthele A, Hemmer B, Deschauer M. Mandler JM, et al. Among authors: deschauer m. Mult Scler J Exp Transl Clin. 2024 Jul 24;10(3):20552173241263491. doi: 10.1177/20552173241263491. eCollection 2024 Jul-Sep. Mult Scler J Exp Transl Clin. 2024. PMID: 39072298 Free PMC article.
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target.
Caldi Gomes L, Hänzelmann S, Hausmann F, Khatri R, Oller S, Parvaz M, Tzeplaeff L, Pasetto L, Gebelin M, Ebbing M, Holzapfel C, Columbro SF, Scozzari S, Knöferle J, Cordts I, Demleitner AF, Deschauer M, Dufke C, Sturm M, Zhou Q, Zelina P, Sudria-Lopez E, Haack TB, Streb S, Kuzma-Kozakiewicz M, Edbauer D, Pasterkamp RJ, Laczko E, Rehrauer H, Schlapbach R, Carapito C, Bonetto V, Bonn S, Lingor P. Caldi Gomes L, et al. Among authors: deschauer m. Nat Commun. 2024 Jun 7;15(1):4893. doi: 10.1038/s41467-024-49196-y. Nat Commun. 2024. PMID: 38849340 Free PMC article.
[Expert recommendations for magnetic resonance imaging of muscle disorders].
Zeng R, Schlaeger S, Türk M, Baum T, Deschauer M, Janka R, Karampinos D, Kassubek J, Keller-Yamamura S, Kornblum C, Lehmann H, Lichtenstein T, Nagel AM, Reimann J, Rosenbohm A, Schlaffke L, Schmidt M, Schneider-Gold C, Schoser B, Trollmann R, Vorgerd M, Weber MA, Kirschke JS, Schmidt J. Zeng R, et al. Among authors: deschauer m. Nervenarzt. 2024 Aug;95(8):721-729. doi: 10.1007/s00115-024-01673-x. Nervenarzt. 2024. PMID: 38683354 Review. German.
175 results