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Page 1
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: stoltenburg didinger g. J Neurol. 2024 Mar 5. doi: 10.1007/s00415-024-12191-w. Online ahead of print. J Neurol. 2024. PMID: 38438820
PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Picker-Minh S, Luperi I, Ravindran E, Kraemer N, Zaqout S, Stoltenburg-Didinger G, Ninnemann O, Hernandez-Miranda LR, Mani S, Kaindl AM. Picker-Minh S, et al. Among authors: stoltenburg didinger g. Cerebellum. 2023 Dec;22(6):1137-1151. doi: 10.1007/s12311-022-01488-z. Epub 2022 Oct 11. Cerebellum. 2023. PMID: 36219306 Free PMC article.
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
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.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Ravindran E, Jühlen R, Vieira-Vieira CH, Ha T, Salzberg Y, Fichtman B, Luise-Becker L, Martins N, Picker-Minh S, Bessa P, Arts P, Jackson MR, Taranath A, Kamien B, Barnett C, Li N, Tarabykin V, Stoltenburg-Didinger G, Harel A, Selbach M, Dickmanns A, Fahrenkrog B, Hu H, Scott H, Kaindl AM. Ravindran E, et al. Among authors: stoltenburg didinger g. Hum Mol Genet. 2021 Nov 1;30(22):2068-2081. doi: 10.1093/hmg/ddab160. Hum Mol Genet. 2021. PMID: 34170319 Free PMC article.
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
Congenital microcephaly-linked CDK5RAP2 affects eye development.
Zaqout S, Ravindran E, Stoltenburg-Didinger G, Kaindl AM. Zaqout S, et al. Among authors: stoltenburg didinger g. Ann Hum Genet. 2020 Jan;84(1):87-91. doi: 10.1111/ahg.12343. Epub 2019 Jul 29. Ann Hum Genet. 2020. PMID: 31355417
Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy.
Bergner CG, van der Meer F, Winkler A, Wrzos C, Türkmen M, Valizada E, Fitzner D, Hametner S, Hartmann C, Pfeifenbring S, Stoltenburg-Didinger G, Brück W, Nessler S, Stadelmann C. Bergner CG, et al. Among authors: stoltenburg didinger g. Glia. 2019 Jun;67(6):1196-1209. doi: 10.1002/glia.23598. Epub 2019 Feb 11. Glia. 2019. PMID: 30980503 Free PMC article.
131 results