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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: hahn a. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
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. 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.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: hahn a. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134 Free 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. Among authors: hahn a. 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. Among authors: hahn a. 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.
Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Johnson K, et al. Among authors: hahn a. Orphanet J Rare Dis. 2017 Nov 17;12(1):173. doi: 10.1186/s13023-017-0722-1. Orphanet J Rare Dis. 2017. PMID: 29149851 Free PMC article.
1,939 results