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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A. Kulessa M, et al. Among authors: vielhaber s. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle.
Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. Schröder R, et al. Among authors: vielhaber s. J Neuropathol Exp Neurol. 2000 May;59(5):353-60. doi: 10.1093/jnen/59.5.353. J Neuropathol Exp Neurol. 2000. PMID: 10888364
Mitochondrial dysfunction in myofibrillar myopathy.
Reimann J, Kunz WS, Vielhaber S, Kappes-Horn K, Schröder R. Reimann J, et al. Among authors: vielhaber s. Neuropathol Appl Neurobiol. 2003 Feb;29(1):45-51. doi: 10.1046/j.1365-2990.2003.00428.x. Neuropathol Appl Neurobiol. 2003. PMID: 12581339
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B. Strothotte S, et al. Among authors: vielhaber s. J Neurol. 2010 Jan;257(1):91-7. doi: 10.1007/s00415-009-5275-3. Epub 2009 Aug 1. J Neurol. 2010. PMID: 19649685 Clinical Trial.
184 results