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BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Carrasco-Rozas A, Fernández-Simón E, Suárez-Calvet X, Piñol-Jurado P, Alonso-Pérez J, de Luna N, Schoser B, Meinke P, Domínguez-González C, Hernández-Laín A, Paradas C, Rivas E, Illa I, Olivé M, Gallardo E, Díaz-Manera J. Carrasco-Rozas A, et al. Among authors: schoser b. Am J Pathol. 2022 Aug;192(8):1151-1166. doi: 10.1016/j.ajpath.2022.05.003. Epub 2022 May 21. Am J Pathol. 2022. PMID: 35605642 Free article.
Toward deconstructing the phenotype of late-onset Pompe disease.
Schüller A, Wenninger S, Strigl-Pill N, Schoser B. Schüller A, et al. Among authors: schoser b. 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
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.
Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PF, Fürst DO, Vorgerd M, Marcus K, Kley RA. Maerkens A, et al. Among authors: schoser b. Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0. Acta Neuropathol Commun. 2016. PMID: 26842778 Free PMC article.
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. van der Ploeg A, et al. Among authors: schoser b. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19. Mol Genet Metab. 2016. PMID: 27473031 Free article. Clinical Trial.
Myotonic Dystrophy-A Progeroid Disease?
Meinke P, Hintze S, Limmer S, Schoser B. Meinke P, et al. Among authors: schoser b. Front Neurol. 2018 Jul 25;9:601. doi: 10.3389/fneur.2018.00601. eCollection 2018. Front Neurol. 2018. PMID: 30140252 Free PMC article.
357 results