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[Treatability of sporadic late onset nemaline myopathy].
Hanisch F, Schneider I, Müller T, Romeike BF, Stoltenburg G, Holzhausen HJ, Zierz S. Hanisch F, et al. Among authors: schneider i. Nervenarzt. 2013 Aug;84(8):955-61. doi: 10.1007/s00115-013-3825-5. Nervenarzt. 2013. PMID: 23836301 Review. German.
The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy.
Mensch A, Meinhardt B, Bley N, Hüttelmaier S, Schneider I, Stoltenburg-Didinger G, Kraya T, Müller T, Zierz S. Mensch A, et al. Among authors: schneider i. Exp Neurol. 2018 Aug;306:222-231. doi: 10.1016/j.expneurol.2018.05.012. Epub 2018 May 12. Exp Neurol. 2018. PMID: 29763601 No abstract available.
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: schneider i. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
Response: Late-onset Pompe disease manifests in the brain.
Schneider I, Hensel O, Zierz S. Schneider I, et al. Mol Genet Metab Rep. 2019 Oct 16;21:100516. doi: 10.1016/j.ymgmr.2019.100516. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31660291 Free PMC article. No abstract available.
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Deschauer M, et al. Among authors: schneider i. Brain. 2021 Mar 3;144(2):574-583. doi: 10.1093/brain/awaa418. Brain. 2021. PMID: 33459760
Quantitative whole-body muscle MRI in idiopathic inflammatory myopathies including polymyositis with mitochondrial pathology: indications for a disease spectrum.
Zierer LK, Naegel S, Schneider I, Kendzierski T, Kleeberg K, Koelsch AK, Scholle L, Schaefer C, Naegel A, Zierz S, Otto M, Stoltenburg-Didinger G, Kraya T, Stoevesandt D, Mensch A. Zierer LK, et al. Among authors: schneider i. J Neurol. 2024 Jun;271(6):3186-3202. doi: 10.1007/s00415-024-12191-w. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38438820 Free PMC article.
849 results