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Page 1
Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.
Novel RYR1 missense mutation causes core rod myopathy.
von der Hagen M, Kress W, Hahn G, Brocke KS, Mitzscherling P, Huebner A, Müller-Reible C, Stoltenburg-Didinger G, Kaindl AM. von der Hagen M, et al. Eur J Neurol. 2008 Apr;15(4):e31-2. doi: 10.1111/j.1468-1331.2008.02094.x. Epub 2008 Feb 26. Eur J Neurol. 2008. PMID: 18312400 No abstract available.
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: stoltenburg didinger g. J Clin Neuromuscul Dis. 2024 Dec 1;26(2):55-62. doi: 10.1097/CND.0000000000000469. J Clin Neuromuscul Dis. 2024. PMID: 39590923 Review.
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 Jun;271(6):3186-3202. doi: 10.1007/s00415-024-12191-w. Epub 2024 Mar 5. J Neurol. 2024. PMID: 38438820 Free PMC article.
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.
132 results