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Page 1
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Hahn A, Lauriol J, Thul J, Behnke-Hall K, Logeswaran T, Schänzer A, Böğürcü N, Garvalov BK, Zenker M, Gelb BD, von Gerlach S, Kandolf R, Kontaridis MI, Schranz D. Hahn A, et al. Among authors: schanzer a. Am J Med Genet A. 2015 Apr;167A(4):744-51. doi: 10.1002/ajmg.a.36982. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25708222 Free PMC article.
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A. Schänzer A, et al. Neuromuscul Disord. 2017 Feb;27(2):141-152. doi: 10.1016/j.nmd.2016.10.010. Epub 2016 Nov 3. Neuromuscul Disord. 2017. PMID: 27927596
Letter to the Editors: Concerning "Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi et al. and Letter to the Editors by Ortolano et al.
Schänzer A, Giese K, Viergutz L, Hahn A. Schänzer A, et al. Mol Genet Metab Rep. 2017 May 16;12:33-34. doi: 10.1016/j.ymgmr.2017.05.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28560178 Free PMC article. No abstract available.
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. Among authors: schanzer a. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.
351 results