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Phenotype of matrin-3-related distal myopathy in 16 German patients.
Müller TJ, Kraya T, Stoltenburg-Didinger G, Hanisch F, Kornhuber M, Stoevesandt D, Senderek J, Weis J, Baum P, Deschauer M, Zierz S. Müller TJ, et al. Ann Neurol. 2014 Nov;76(5):669-80. doi: 10.1002/ana.24255. Epub 2014 Sep 16. Ann Neurol. 2014. PMID: 25154462
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A, Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S, Deschauer M. Mensch A, et al. Among authors: stoltenburg didinger g. J Neuromuscul Dis. 2022;9(4):533-541. doi: 10.3233/JND-220822. J Neuromuscul Dis. 2022. PMID: 35694932
Systematic Classification of Spina Bifida.
Schindelmann KH, Paschereit F, Steege A, Stoltenburg-Didinger G, Kaindl AM. Schindelmann KH, et al. Among authors: stoltenburg didinger g. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):294-305. doi: 10.1093/jnen/nlab007. J Neuropathol Exp Neurol. 2021. PMID: 33576426
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: stoltenburg didinger g. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
Cerebral Abnormalities in Spina Bifida: A Neuropathological Study.
Paschereit F, Schindelmann KH, Hummel M, Schneider J, Stoltenburg-Didinger G, Kaindl AM. Paschereit F, et al. Among authors: stoltenburg didinger g. Pediatr Dev Pathol. 2022 Mar-Apr;25(2):107-123. doi: 10.1177/10935266211040500. Epub 2021 Oct 6. Pediatr Dev Pathol. 2022. PMID: 34614376 Free PMC article.
132 results