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Recently Identified Congenital Myopathies.
Radke J, Stenzel W, Goebel HH. Radke J, et al. Among authors: goebel hh. Semin Pediatr Neurol. 2019 Apr;29:83-90. doi: 10.1016/j.spen.2019.01.008. Epub 2019 Feb 10. Semin Pediatr Neurol. 2019. PMID: 31060728 Review.
The Curse of Apneic Spells.
Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH. Radke J, et al. Among authors: goebel hh. Semin Pediatr Neurol. 2018 Jul;26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13. Semin Pediatr Neurol. 2018. PMID: 29961520
Congenital myopathies: The current status.
Goebel HH, Dittmayer C, Stenzel W. Goebel HH, et al. Indian J Pathol Microbiol. 2022 May;65(Supplement):S271-S276. doi: 10.4103/ijpm.ijpm_1031_21. Indian J Pathol Microbiol. 2022. PMID: 35562159 Free article. Review.
Ultrastructural myopathology in the molecular era.
Goebel HH, Stenzel W. Goebel HH, et al. Ultrastruct Pathol. 2013 Oct;37(5):328-31. doi: 10.3109/01913123.2013.810690. Ultrastruct Pathol. 2013. PMID: 24047350 Review.
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.
Stenzel W, Preuße C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, Nolte K, Aronica E, Kana V, Rushing E, Schneider U, Claeys KG, Benveniste O, Weis J, Goebel HH. Stenzel W, et al. Among authors: goebel hh. Neurology. 2015 Mar 31;84(13):1346-54. doi: 10.1212/WNL.0000000000001422. Epub 2015 Mar 6. Neurology. 2015. PMID: 25746564 Free article.
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.
Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T. Pajusalu S, et al. Among authors: goebel hh. Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011. Epub 2015 Dec 3. Neuromuscul Disord. 2016. PMID: 26782017
Cytoplasmic body myopathy revisited.
Schuelke M, Schwarz M, Stenzel W, Goebel HH. Schuelke M, et al. Among authors: goebel hh. Neuromuscul Disord. 2018 Nov;28(11):969-971. doi: 10.1016/j.nmd.2018.08.006. Epub 2018 Aug 30. Neuromuscul Disord. 2018. PMID: 30253894 No abstract available.
Autophagic vacuolar myopathy is a common feature of CLN3 disease.
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH. Radke J, et al. Among authors: goebel hh. Ann Clin Transl Neurol. 2018 Oct 14;5(11):1385-1393. doi: 10.1002/acn3.662. eCollection 2018 Nov. Ann Clin Transl Neurol. 2018. PMID: 30480032 Free PMC article.
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