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Page 1
Pregnancy and delivery in women with Pompe disease.
Karabul N, Berndt J, Kornblum C, Kley RA, Wenninger S, Tiling N, Mengel E, Plöckinger U, Vorgerd M, Deschauer M, Schoser B, Hanisch F. Karabul N, et al. Among authors: kornblum c. Mol Genet Metab. 2014 Jun;112(2):148-53. doi: 10.1016/j.ymgme.2014.03.010. Epub 2014 Mar 30. Mol Genet Metab. 2014. PMID: 24726296
36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy.
Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, Müller-Felber W, Glocker FX, Spranger M, Deschauer M, Mengel E, Schoser B. Regnery C, et al. Among authors: kornblum c. J Inherit Metab Dis. 2012 Sep;35(5):837-45. doi: 10.1007/s10545-012-9451-8. Epub 2012 Jan 31. J Inherit Metab Dis. 2012. PMID: 22290025 Clinical Trial.
[Diagnosis and therapy of late onset Pompe disease].
Schüller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, Lukacs Z, Gläser D, Young P, Plöckinger U, Schoser B. Schüller A, et al. Among authors: kornblum c. Nervenarzt. 2013 Dec;84(12):1467-72. doi: 10.1007/s00115-013-3947-9. Nervenarzt. 2013. PMID: 24264645 Review. German.
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: kornblum c. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
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: kornblum c. 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.
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Winter L, Wittig I, Peeva V, Eggers B, Heidler J, Chevessier F, Kley RA, Barkovits K, Strecker V, Berwanger C, Herrmann H, Marcus K, Kornblum C, Kunz WS, Schröder R, Clemen CS. Winter L, et al. Among authors: kornblum c. Acta Neuropathol. 2016 Sep;132(3):453-73. doi: 10.1007/s00401-016-1592-7. Epub 2016 Jul 8. Acta Neuropathol. 2016. PMID: 27393313 Free PMC article.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Deschauer M, et al. Among authors: kornblum c. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418. Brain. 2021. PMID: 33459760
106 results