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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.
Blaesius K, Abbasi AA, Tahir TH, Tietze A, Picker-Minh S, Ali G, Farooq S, Hu H, Latif Z, Khan MN, Kaindl A. Blaesius K, et al. Among authors: tietze a. Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5. Am J Med Genet A. 2018. PMID: 30289604 No abstract available.
Clinical Outcome of Children With Corpus Callosum Agenesis.
Raile V, Herz NA, Promnitz G, Schneider J, Tietze A, Kaindl AM. Raile V, et al. Among authors: tietze a. Pediatr Neurol. 2020 Nov;112:47-52. doi: 10.1016/j.pediatrneurol.2020.07.013. Epub 2020 Aug 11. Pediatr Neurol. 2020. PMID: 32911263
Infratentorial MRI Findings in Rasmussen Encephalitis Suggest Primary Cerebellar Involvement.
Reiter JT, David B, Enders S, Prillwitz CC, Bauer T, Atalay D, Tietze A, Kaindl AM, Keil V, Radbruch A, Weber B, Becker AJ, Elger CE, Surges R, Rüber T. Reiter JT, et al. Among authors: tietze a. Neurol Neuroimmunol Neuroinflamm. 2021 Aug 13;8(6):e1058. doi: 10.1212/NXI.0000000000001058. Print 2021 Nov. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34389659 Free PMC article.
Is cannabidiol worth a trial in Rasmussen encephalitis?
Prager C, Kühne F, Tietze A, Kaindl AM. Prager C, et al. Among authors: tietze a. Eur J Paediatr Neurol. 2022 Mar;37:53-55. doi: 10.1016/j.ejpn.2022.01.008. Epub 2022 Jan 11. Eur J Paediatr Neurol. 2022. PMID: 35093803 Free article.
140 results