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Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: guttsches ak. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.
Gruhn KM, Heyer CM, Güttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, Tegenthoff M, Vorgerd M, Kley RA. Gruhn KM, et al. Among authors: guttsches ak. Mol Genet Metab Rep. 2015 Apr 21;3:58-64. doi: 10.1016/j.ymgmr.2015.03.010. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937398 Free PMC article.
Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial.
Grigull L, Lechner W, Petri S, Kollewe K, Dengler R, Mehmecke S, Schumacher U, Lücke T, Schneider-Gold C, Köhler C, Güttsches AK, Kortum X, Klawonn F. Grigull L, et al. Among authors: guttsches ak. BMC Med Inform Decis Mak. 2016 Mar 8;16:31. doi: 10.1186/s12911-016-0268-5. BMC Med Inform Decis Mak. 2016. PMID: 26957320 Free PMC article.
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA. Güttsches AK, et al. Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27. Ann Neurol. 2017. PMID: 28009083 Free PMC article.
Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study.
Sczesny-Kaiser M, Kowalewski R, Schildhauer TA, Aach M, Jansen O, Grasmücke D, Güttsches AK, Vorgerd M, Tegenthoff M. Sczesny-Kaiser M, et al. Among authors: guttsches ak. Front Neurosci. 2017 Aug 8;11:449. doi: 10.3389/fnins.2017.00449. eCollection 2017. Front Neurosci. 2017. PMID: 28848377 Free PMC article.
38 results