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Page 1
[Congenital and endogenous endocrine myopathy].
Wenninger S, Schoser B. Wenninger S, et al. Z Rheumatol. 2011 Nov;70(9):760-2, 764-6. doi: 10.1007/s00393-011-0787-5. Z Rheumatol. 2011. PMID: 21904835 German.
Toward deconstructing the phenotype of late-onset Pompe disease.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Schüller A, et al. Among authors: wenninger s. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):80-8. doi: 10.1002/ajmg.c.31322. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253010
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: wenninger s. 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
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Among authors: wenninger s. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297
65 results