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102 results

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Page 1
Cerebral folate deficiency: a neurometabolic syndrome?
Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: opladen t. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, García-Cazorla À, Roullet JB, Gibson KM, Pearl PL. Tokatly Latzer I, et al. Among authors: opladen t. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285 Free PMC article.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Yıldız Y, Kuseyri Hübschmann O, Akgöz Karaosmanoğlu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Palacios NAJ, Porta F, Kavecan I, Balcı MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, García-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S, Opladen T. Yıldız Y, et al. Among authors: opladen t. J Inherit Metab Dis. 2024 May;47(3):431-446. doi: 10.1002/jimd.12658. Epub 2023 Jul 24. J Inherit Metab Dis. 2024. PMID: 37452721
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
Roubertie A, Opladen T, Brennenstuhl H, Kuseyri Hübschmann O, Flint L, Willemsen MA, Leuzzi V, Cazorla AG, Kurian MA, François-Heude MC, Hwu P, Zeev BB, Kiening K, Roujeau T, Pons R, Pearson TS. Roubertie A, et al. Among authors: opladen t. J Inherit Metab Dis. 2024 May;47(3):463-475. doi: 10.1002/jimd.12649. Epub 2023 Jul 17. J Inherit Metab Dis. 2024. PMID: 37402126 Review.
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
Jung-Klawitter S, Richter P, Yuan Y, Welzel K, Kube M, Bähr S, Leibner A, Flory E, Opladen T. Jung-Klawitter S, et al. Among authors: opladen t. J Inherit Metab Dis. 2024 May;47(3):517-532. doi: 10.1002/jimd.12690. Epub 2023 Dec 12. J Inherit Metab Dis. 2024. PMID: 38084654
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H. Schröter J, et al. Among authors: opladen t. Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36789265 Free PMC article.
Reduced folate transport to the CNS in female Rett patients.
Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Among authors: opladen t. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425
102 results