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851 results

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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: 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
Mitochondrial abnormalities in myofibrillar myopathies.
Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F. Joshi PR, et al. Among authors: schneider i. Clin Neuropathol. 2014 Mar-Apr;33(2):134-42. doi: 10.5414/NP300693. Clin Neuropathol. 2014. PMID: 24361111
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
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders-Clinicohistologic Findings and Review of the Literature.
Mensch A, Jordan B, Weis J, Nikolin S, Schneider I, Abicht A, Gehling S, Kendzierski T, Stoltenburg-Didinger G, Stoevesandt D, Kraya T, Zierz S, Naegel S. Mensch A, et al. Among authors: schneider i. J Clin Neuromuscul Dis. 2024 Dec 1;26(2):55-62. doi: 10.1097/CND.0000000000000469. J Clin Neuromuscul Dis. 2024. PMID: 39590923 Review.
851 results