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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
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.
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.
Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K, Sifringer M, Schrötter S, Eickholt BJ, van den Heuvel L, Casamina C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hübner C, Kaindl AM. Hu H, et al. Ann Clin Transl Neurol. 2014 Dec;1(12):1024-35. doi: 10.1002/acn3.149. Epub 2014 Dec 3. Ann Clin Transl Neurol. 2014. PMID: 25574476 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.
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.
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
132 results